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00000nz a2200037n 45 0 |
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WKP|Q58399821
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20241221010726.0 |
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(WKP)Q58399821
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0000-0003-1201-6731
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orcid
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57203381446
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scopus
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16073972500
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scopus
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(OCoLC)Q58399821
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100
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Richard J Smith
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es
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1
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iso5218
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রিচার্ড জে স্মিথ
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Richard J Smith
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researcher ORCID ID = 0000-0003-1201-6731
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en
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400
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Richard J Smith
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onderzoeker
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nl
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670
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Author's A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans
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670
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Author's A candidate prostate cancer susceptibility gene at chromosome 17p
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670
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Author's A classification scheme for paradoxical vocal cord motion
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670
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Author's A claudin-9-based ion permeability barrier is essential for hearing.
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670
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Author's A comparative analysis of genetic hearing loss phenotypes in European/American and Japanese populations
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670
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Author's A comparative study of the fallopian canal at the meatal foramen and labyrinthine segment in young children and adults
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670
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Author's A comprehensive study to determine heterogeneity of autosomal recessive nonsyndromic hearing loss in Iran
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670
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Author's A contemporary review of AudioGene audioprofiling: a machine-based candidate gene prediction tool for autosomal dominant nonsyndromic hearing loss.
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670
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Author's A forward genetics screen in mice identifies recessive deafness traits and reveals that pejvakin is essential for outer hair cell function
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670
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Author's A gene for fluctuating, progressive autosomal dominant nonsyndromic hearing loss, DFNA16, maps to chromosome 2q23-24.3.
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670
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Author's A histologic study of nonmorphogenetic forms of hereditary hearing impairment.
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670
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Author's A large deletion in GPR98 causes type IIC Usher syndrome in male and female members of an Iranian family.
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670
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Author's A new glyptosaurine lizard from the earliest Eocene of Dormaal, Belgium
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670
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Author's A new tissue adhesive for laceration repair in children
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670
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Author's A novel deletion in the RCA gene cluster causes atypical hemolytic uremic syndrome.
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670
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Author's A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment.
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670
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Author's A novel DFNA5 mutation does not cause hearing loss in an Iranian family.
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670
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Author's A novel DFNB1 deletion allele supports the existence of a distant cis-regulatory region that controls GJB2 and GJB6 expression.
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670
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Author's A novel locus for autosomal dominant nonsyndromic hearing loss, DFNA13, maps to chromosome 6p
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670
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Author's A novel mutation adjacent to the Bth mouse mutation in the TMC1 gene makes this mouse an excellent model of human deafness at the DFNA36 locus.
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670
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Author's A novel mutation in ACTG1 causing Baraitser-Winter syndrome with extremely variable expressivity in three generations.
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670
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Author's A novel splice site mutation in EYA4 causes DFNA10 hearing loss.
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670
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‡a
Author's A novel splice site mutation in the RDX gene causes DFNB24 hearing loss in an Iranian family.
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670
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Author's A Progress Report on the Localization of Usher Syndrome Type II to Chromosome 1q
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670
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Author's A proposal for comprehensive newborn hearing screening to improve identification of deaf and hard-of-hearing children
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670
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Author's A second gene for otosclerosis, OTSC2, maps to chromosome 7q34-36.
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670
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‡a
Author's A seventh locus for otosclerosis, OTSC7, maps to chromosome 6q13-16.1.
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670
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‡a
Author's A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing
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670
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‡a
Author's Acyclovir in the treatment of recurrent respiratory papillomatosis. A pilot study
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670
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Author's Advances in molecular and cellular therapies for hearing loss.
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670
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Author's Aerocele after tracheocutaneous fistula closure
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670
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Author's Age-related mitochondrial DNA mutations in the human larynx
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670
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Author's Allelic variants of complement genes associated with dense deposit disease
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670
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‡a
Author's Alternative pathway dysfunction in kidney disease: a case report and review of dense deposit disease and C3 glomerulopathy.
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670
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‡a
Author's An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.
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670
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‡a
Author's An update on the treatment of hemangiomas in children with interferon alfa-2a
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670
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‡a
Author's Atypical aHUS: State of the art.
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670
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‡a
Author's Atypical haemolytic-uraemic syndrome due to heterozygous mutations of CFH/CFHR1-3 and complement factor H 479.
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670
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‡a
Author's Atypical hemolytic uremic syndrome and C3 glomerulopathy: conclusions from a "Kidney Disease: Improving Global Outcomes"
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670
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‡a
Author's Atypical hemolytic uremic syndrome and C3 glomerulopathy: conclusions from a "Kidney Disease: Improving Global Outcomes" (KDIGO) Controversies Conference.
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670
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‡a
Author's AudioGene: predicting hearing loss genotypes from phenotypes to guide genetic screening.
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670
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‡a
Author's AudioGene: refining the natural history of KCNQ4, GSDME, WFS1, and COCH-associated hearing loss
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670
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‡a
Author's Audioprofile-directed screening identifies novel mutations in KCNQ4 causing hearing loss at the DFNA2 locus.
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670
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‡a
Author's Audioprofile Surfaces: The 21st Century Audiogram
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670
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‡a
Author's Audioprofiling identifies TECTA and GJB2-related deafness segregating in a single extended pedigree.
|
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670
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‡a
Author's Autoimmune disease in a DFNA6/14/38 family carrying a novel missense mutation in WFS1.
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670
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‡a
Author's Autosomal dominant branchio-oto-renal syndrome--localization of a disease gene to chromosome 8q by linkage in a Dutch family
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670
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‡a
Author's Benign mucous membrane pemphigoid
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670
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‡a
Author's Bilateral pneumolabyrinth diagnostic for otic capsule fractures without high-resolution imaging.
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670
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‡a
Author's Bipolar hooked-wire electromyographic technique in the evaluation of pediatric vocal cord paralysis.
|
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670
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‡a
Author's Branchio-oto-renal syndrome
|
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670
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‡a
Author's Branchio-oto-renal syndrome (BOR): novel mutations in the EYA1 gene, and a review of the mutational genetics of BOR.
|
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670
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‡a
Author's Branchio-oto-renal syndrome: the mutation spectrum in EYA1 and its phenotypic consequences.
|
|
670
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‡a
Author's C3 glomerulonephritis and autoimmune disease: more than a fortuitous association?
|
|
670
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‡a
Author's C3 glomerulonephritis associated with complement factor B mutation
|
|
670
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‡a
Author's C3 glomerulonephritis associated with monoclonal gammopathy: a case series.
|
|
670
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‡a
Author's C3 glomerulonephritis secondary to mutations in factors H and I: rapid recurrence in deceased donor kidney transplant effectively treated with eculizumab.
|
|
670
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|
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‡a
Author's C3 glomerulonephritis with a severe crescentic phenotype.
|
|
670
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‡a
Author's C3 glomerulopathy associated with monoclonal Ig is a distinct subtype
|
|
670
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‡a
Author's C3 glomerulopathy: consensus report
|
|
670
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|
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‡a
Author's C3 Glomerulopathy: Ten Years' Experience at Mayo Clinic
|
|
670
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‡a
Author's C3 glomerulopathy: the genetic and clinical findings in dense deposit disease and C3 glomerulonephritis.
|
|
670
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‡a
Author's C4 dense-deposit disease
|
|
670
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‡a
Author's C4 Glomerulopathy: A Disease Entity Associated With C4d Deposition
|
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670
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‡a
Author's C4 Nephritic Factors in C3 Glomerulopathy: A Case Series.
|
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670
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‡a
Author's Carcinoembryonic antigen-related cell adhesion molecule 16 interacts with alpha-tectorin and is mutated in autosomal dominant hearing loss (DFNA4).
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670
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‡a
Author's Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness.
|
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670
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‡a
Author's Case of progressive dysplasia concomitant with intralesional cidofovir administration for recurrent respiratory papillomatosis
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670
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‡a
Author's Causes of facial swelling in pediatric patients: correlation of clinical and radiologic findings.
|
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670
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‡a
Author's Cav3.2 T-type calcium channel is required for the NFAT-dependent Sox9 expression in tracheal cartilage
|
|
670
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‡a
Author's CDC14A Phosphatase is Essential for Hearing and Male Fertility in Mouse and Human.
|
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670
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Author's Cervical vertebral anomalies in patients with anomalies of the head and neck.
|
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670
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‡a
Author's Challenges and solutions for gene identification in the presence of familial locus heterogeneity
|
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670
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‡a
Author's Characterisation of DRASIC in the mouse inner ear.
|
|
670
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‡a
Author's Characterising the spectrum of autosomal recessive hereditary hearing loss in Iran
|
|
670
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‡a
Author's Characterization of C3 in C3 glomerulopathy
|
|
670
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‡a
Author's Chronic cough and tonsillar hypertrophy: a case series
|
|
670
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‡a
Author's CIB2, defective in isolated deafness, is key for auditory hair cell mechanotransduction and survival
|
|
670
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‡a
Author's Clinical aspects of hereditary hearing loss.
|
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670
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‡a
Author's Clinical diagnosis of the Usher syndromes. Usher Syndrome Consortium
|
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670
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‡a
Author's Clinical features and outcomes of 98 children and adults with dense deposit disease.
|
|
670
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‡a
Author's Clinical findings, pathology, and outcomes of C3GN after kidney transplantation
|
|
670
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‡a
Author's Cloning genes for non-syndromal hearing impairment.
|
|
670
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‡a
Author's COCH-related autosomal dominant nonsyndromic hearing loss: a phenotype–genotype study
|
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670
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‡a
Author's Cochlear expression of a dominant-negative GJB2R75W construct delivered through the round window membrane in mice.
|
|
670
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‡a
Author's Col11a2 deletion reveals the molecular basis for tectorial membrane mechanical anisotropy.
|
|
670
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‡a
Author's COL1A1 association and otosclerosis: A meta-analysis
|
|
670
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‡a
Author's Commentary on “Dysplasia in Adults with Recurrent Respiratory Papillomatosis: Incidence and Risk Factors”
|
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670
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‡a
Author's Comparative linkage analysis and visualization of high-density oligonucleotide SNP array data
|
|
670
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‡a
Author's Complement C3-Targeted Therapy: Replacing Long-Held Assertions with Evidence-Based Discovery.
|
|
670
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‡a
Author's Complement factor B mutations in atypical hemolytic uremic syndrome-disease-relevant or benign?
|
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670
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‡a
Author's Complement factor H mutations are present in ADAMTS13-deficient, ticlopidine-associated thrombotic microangiopathies.
|
|
670
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‡a
Author's Complement inhibition in C3 glomerulopathy.
|
|
670
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‡a
Author's Comprehensive genetic analysis of complement and coagulation genes in atypical hemolytic uremic syndrome
|
|
670
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‡a
Author's Comprehensive Genetic Testing for Deafness from Fresh and Archived Dried Blood Spots
|
|
670
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|
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‡a
Author's Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing.
|
|
670
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|
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‡a
Author's Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss
|
|
670
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|
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‡a
Author's Comprehensive genetic testing with ethnic-specific filtering by allele frequency in a Japanese hearing-loss population
|
|
670
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|
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‡a
Author's Compstatin analog Cp40 inhibits complement dysregulation in vitro in C3 glomerulopathy
|
|
670
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‡a
Author's Congenital anomalies of the larynx
|
|
670
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‡a
Author's Congenital hearing loss.
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|
670
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‡a
Author's Congenital laryngeal webs: surgical course and outcomes
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|
670
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Author's Congenital oral synechiae.
|
|
670
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‡a
Author's Connexin mutations and hearing loss
|
|
670
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‡a
Author's Consanguineous nuclear families used to identify a new locus for recessive non-syndromic hearing loss on 14q.
|
|
670
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‡a
Author's Consortium of otolaryngology-head and neck surgery journals to collaborate in maintenance of high ethical standards
|
|
670
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‡a
Author's Consortium statement. The value of resident presentations at scientific meetings.
|
|
670
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‡a
Author's Construction of P1-derived artificial chromosome and yeast artificial chromosome contigs encompassing the DFNB7 and DFNB11 region of chromosome 9q13-21.
|
|
670
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‡a
Author's Construction of P1-Derived Artificial Chromosome and Yeast Artificial Chromosome Contigs Encompassing the DFNB7 andDFNB11 Region of Chromosome 9q13–21
|
|
670
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|
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‡a
Author's Contig Maps and Genomic Sequencing Identify Candidate Genes in the Usher 1C Locus
|
|
670
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|
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‡a
Author's Copy number variants are a common cause of non-syndromic hearing loss
|
|
670
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‡a
Author's Cordova: web-based management of genetic variation data
|
|
670
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‡a
Author's Craniocervical necrotizing fasciitis
|
|
670
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‡a
Author's Craniofacial growth in rabbits. Effects of midfacial surgical trauma and rigid plate fixation
|
|
670
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‡a
Author's Current management of laryngeal and laryngotracheoesophageal clefts
|
|
670
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‡a
Author's Cystic fibrosis--an otolaryngologic perspective
|
|
670
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‡a
Author's De novo mutation in X-linked hearing loss-associated POU3F4 in a sporadic case of congenital hearing loss
|
|
670
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‡a
Author's Deafness: from bedside to bench and back
|
|
670
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‡a
Author's Defining the complement biomarker profile of C3 glomerulopathy
|
|
670
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‡a
Author's Degrees of dysplasia and the use of cidofovir in patients with recurrent respiratory papillomatosis.
|
|
670
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‡a
Author's Dense deposit disease.
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|
670
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‡a
Author's Dense deposit disease and the factor H H402 allele.
|
|
670
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‡a
Author's Dense Deposit Disease Associated With Monoclonal Gammopathy of Undetermined Significance
|
|
670
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‡a
Author's Detection and Confirmation of Deafness-Causing Copy Number Variations in the STRC Gene by Massively Parallel Sequencing and Comparative Genomic Hybridization.
|
|
670
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‡a
Author's Developmental aspects of the upper airway: report from an NHLBI Workshop, March 5-6, 2009.
|
|
670
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‡a
Author's DFNA5 (GSDME) c.991-15_991-13delTTC: Founder Mutation or Mutational Hotspot?
|
|
670
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‡a
Author's DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss.
|
|
670
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‡a
Author's Diagnosis and treatment of C3 glomerulopathy.
|
|
670
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‡a
Author's Diagnosis of complement alternative pathway disorders
|
|
670
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|
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‡a
Author's Discontinuation of dialysis with eculizumab therapy in a pediatric patient with dense deposit disease.
|
|
670
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‡a
Author's Distal tracheal stenosis in neonates and infants
|
|
670
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‡a
Author's Do the genes that cause otosclerosis reduce susceptibility to otitis media?
|
|
670
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‡a
Author's Early childhood hearing loss: clinical and molecular genetics. An educational slide set of the American College of Medical Genetics.
|
|
670
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‡a
Author's Eculizumab and recurrent C3 glomerulonephritis
|
|
670
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|
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‡a
Author's Eculizumab for dense deposit disease and C3 glomerulonephritis
|
|
670
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|
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‡a
Author's Effects of rigid plate fixation and subsequent removal on craniofacial growth in rabbits
|
|
670
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‡a
Author's Endobronchial tumors in children: an uncommon clinical entity
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|
670
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‡a
Author's Endoscopic excision and repair of simulated bilateral cleft lips in fetal lambs
|
|
670
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‡a
Author's Endoscopic repair of type IA laryngeal clefts
|
|
670
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‡a
Author's Enhanced viral-mediated cochlear gene delivery in adult mice by combining canal fenestration with round window membrane inoculation
|
|
670
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‡a
Author's Erratum: Polymorphisms in KCNE1 or KCNE3 are not associated with Ménière disease in the Caucasian population
|
|
670
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‡a
Author's Exercise-induced laryngomalacia.
|
|
670
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‡a
Author's Exome sequencing utility in defining the genetic landscape of hearing loss and novel-gene discovery in Iran
|
|
670
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‡a
Author's Exonic mutations and exon skipping: Lessons learned from DFNA5.
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|
670
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‡a
Author's Facial skeletal growth after endoscopic sinus surgery in the piglet model
|
|
670
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‡a
Author's Factor I and factor H deficiency in renal diseases: similar defects in the fluid phase have a different outcome at the surface of the glomerular basement membrane.
|
|
670
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‡a
Author's Factors correlating with burnout in practicing otolaryngologists.
|
|
670
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‡a
Author's Factors influencing treatment of atypical hemolytic uremic syndrome.
|
|
670
|
|
|
‡a
Author's Familial atypical hemolytic uremic syndrome: a review of its genetic and clinical aspects
|
|
670
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|
|
‡a
Author's Familial C3 glomerulonephritis caused by a novel CFHR5-CFHR2 fusion gene
|
|
670
|
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|
‡a
Author's Familial laryngeal paralysis
|
|
670
|
|
|
‡a
Author's Familial transmission of oculoauriculovertebral spectrum (Goldenhar syndrome) is not due to mutations in either EYA1 or SALL1
|
|
670
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|
|
‡a
Author's Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics?
|
|
670
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|
‡a
Author's Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children.
|
|
670
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|
|
‡a
Author's Function and expression pattern of nonsyndromic deafness genes
|
|
670
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‡a
Author's Functional variants in NOS1 and NOS2A are not associated with progressive hearing loss in Ménière's disease in a European Caucasian population.
|
|
670
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|
‡a
Author's Gene expression analysis of human otosclerotic stapedial footplates.
|
|
670
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‡a
Author's Generation of multiple fluid-phase C3b:plasma protein complexes during complement activation: possible implications in C3 glomerulopathies
|
|
670
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|
‡a
Author's Genetic Analysis of 400 Patients Refines Understanding and Implicates a New Gene in Atypical Hemolytic Uremic Syndrome
|
|
670
|
|
|
‡a
Author's Genetic heterogeneity of deafness phenotypes linked to DFNA4
|
|
670
|
|
|
‡a
Author's Genetic heterogeneity of Usher syndrome: analysis of 151 families with Usher type I.
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|
670
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|
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‡a
Author's Genetic male infertility and mutation of CATSPER ion channels.
|
|
670
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‡a
Author's Genetic screening for deafness.
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|
670
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‡a
Author's Genetic screening for hearing loss.
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|
670
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‡a
Author's Genetic Studies of Usher Syndrome
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|
670
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|
‡a
Author's Genetic variants in the peripheral auditory system significantly affect adult cochlear implant performance.
|
|
670
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‡a
Author's Genetic variants in the RELN gene are associated with otosclerosis in multiple European populations.
|
|
670
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‡a
Author's Genetics: advances in genetic testing for deafness
|
|
670
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‡a
Author's Genetics Evaluation Guidelines for the Etiologic Diagnosis of Congenital Hearing Loss. Genetic Evaluation of Congenital Hearing Loss Expert Panel. ACMG statement
|
|
670
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|
|
‡a
Author's Genetics of hearing impairment.
|
|
670
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‡a
Author's Genomic Landscape and Mutational Signatures of Deafness-Associated Genes
|
|
670
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‡a
Author's Genomic rearrangements of EYA1 account for a large fraction of families with BOR syndrome
|
|
670
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|
|
‡a
Author's Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa
|
|
670
|
|
|
‡a
Author's Genotype-phenotype correlations for SLC26A4-related deafness.
|
|
670
|
|
|
‡a
Author's Gipc3 mutations associated with audiogenic seizures and sensorineural hearing loss in mouse and human.
|
|
670
|
|
|
‡a
Author's GJB2 gene mutations causing familial hereditary deafness in Turkey.
|
|
670
|
|
|
‡a
Author's GJB2 mutations and degree of hearing loss: a multicenter study
|
|
670
|
|
|
‡a
Author's GJB2 mutations: passage through Iran
|
|
670
|
|
|
‡a
Author's GJB2: the spectrum of deafness-causing allele variants and their phenotype.
|
|
670
|
|
|
‡a
Author's Grxcr2 is required for stereocilia morphogenesis in the cochlea
|
|
670
|
|
|
‡a
Author's Headbobber: a combined morphogenetic and cochleosaccular mouse model to study 10qter deletions in human deafness
|
|
670
|
|
|
‡a
Author's Hearing genes and cisplatin deafness: a pilot study.
|
|
670
|
|
|
‡a
Author's Hearing loss caused by a P2RX2 mutation identified in a MELAS family with a coexisting mitochondrial 3243AG mutation
|
|
670
|
|
|
‡a
Author's Hearing loss disorders associated with renal disease.
|
|
670
|
|
|
‡a
Author's High frequency of the p.R34X mutation in the TMC1 gene associated with nonsyndromic hearing loss is due to founder effects
|
|
670
|
|
|
‡a
Author's High prevalence of symptoms of Menière's disease in three families with a mutation in the COCH gene
|
|
670
|
|
|
‡a
Author's High-Throughput Genetic Testing for Thrombotic Microangiopathies and C3 Glomerulopathies
|
|
670
|
|
|
‡a
Author's HOMER2, a stereociliary scaffolding protein, is essential for normal hearing in humans and mice.
|
|
670
|
|
|
‡a
Author's HspE7 treatment of pediatric recurrent respiratory papillomatosis: final results of an open-label trial
|
|
670
|
|
|
‡a
Author's Identification and mutation analysis of a cochlear-expressed, zinc finger protein gene at the DFNB7/11 and dn hearing-loss loci on human chromosome 9q and mouse chromosome 19.
|
|
670
|
|
|
‡a
Author's Identification of SLC26A4 gene mutations in Iranian families with hereditary hearing impairment.
|
|
670
|
|
|
‡a
Author's Identification of three novel TECTA mutations in Iranian families with autosomal recessive nonsyndromic hearing impairment at the DFNB21 locus.
|
|
670
|
|
|
‡a
Author's IgG4-related disease in an adolescent with radiologic-pathologic correlation
|
|
670
|
|
|
‡a
Author's Impact of tympanostomy tubes on child quality of life.
|
|
670
|
|
|
‡a
Author's Impairment of SLC17A8 encoding vesicular glutamate transporter-3, VGLUT3, underlies nonsyndromic deafness DFNA25 and inner hair cell dysfunction in null mice.
|
|
670
|
|
|
‡a
Author's In vitro and in vivo suppression of GJB2 expression by RNA interference.
|
|
670
|
|
|
‡a
Author's In Vivo Electrocochleography in Hybrid Cochlear Implant Users Implicates TMPRSS3 in Spiral Ganglion Function
|
|
670
|
|
|
‡a
Author's Inactivation of NADPH oxidase organizer 1 results in severe imbalance
|
|
670
|
|
|
‡a
Author's Incidence of vocal fold paralysis in infants undergoing ligation of patent ductus arteriosus.
|
|
670
|
|
|
‡a
Author's Interarytenoid notch height relative to the vocal folds. Pilot study.
|
|
670
|
|
|
‡a
Author's International Pediatric ORL Group (IPOG) laryngomalacia consensus recommendations
|
|
670
|
|
|
‡a
Author's International Pediatric Otolaryngology Group (IPOG) consensus recommendations: Hearing loss in the pediatric patient.
|
|
670
|
|
|
‡a
Author's Intra-arterial cisplatin treatment of adenoid cystic carcinoma
|
|
670
|
|
|
‡a
Author's Intracellular Regulome Variability Along the Organ of Corti: Evidence, Approaches, Challenges, and Perspective.
|
|
670
|
|
|
‡a
Author's Intraoperative diagnosis of primary ciliary dyskinesia
|
|
670
|
|
|
‡a
Author's Intravenous rAAV2/9 injection for murine cochlear gene delivery.
|
|
670
|
|
|
‡a
Author's Is Genetic Testing Indicated in a Pediatric Patient with Unilateral Hearing Loss or <scp>Single‐Sided</scp> Deafness?
|
|
670
|
|
|
‡a
Author's Ketogenic diet - A novel treatment for early epileptic encephalopathy due to PIGA deficiency.
|
|
670
|
|
|
‡a
Author's Laryngeal motion during exercise
|
|
670
|
|
|
‡a
Author's Laryngomalacia and its treatment
|
|
670
|
|
|
‡a
Author's Learner Autonomy in Developing Countries
|
|
670
|
|
|
‡a
Author's Linkage of a gene for dominant non-syndromic deafness to chromosome 19.
|
|
670
|
|
|
‡a
Author's Linkage of Usher syndrome type I gene (USH1B) to the long arm of chromosome 11
|
|
670
|
|
|
‡a
Author's Linkage studies of Usher syndrome type 1: exclusion results from the Usher syndrome consortium
|
|
670
|
|
|
‡a
Author's Localization of a gene for non-syndromic hearing loss
|
|
670
|
|
|
‡a
Author's Localization of a gene for non-syndromic hearing loss (DFNA5) to chromosome 7p15.
|
|
670
|
|
|
‡a
Author's Localization of a gene for otosclerosis to chromosome 15q25-q26.
|
|
670
|
|
|
‡a
Author's Localization of the gene for familial laryngeal abductor paralysis to chromosome 6q16
|
|
670
|
|
|
‡a
Author's Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42
|
|
670
|
|
|
‡a
Author's Lymphangioma. An otolaryngologic perspective
|
|
670
|
|
|
‡a
Author's Lymphatic malformations
|
|
670
|
|
|
‡a
Author's Making sense of nonsyndromic deafness
|
|
670
|
|
|
‡a
Author's Massively Parallel Sequencing for Genetic Diagnosis of Hearing Loss: The New Standard of Care
|
|
670
|
|
|
‡a
Author's Maternally inherited nonsyndromic hearing loss.
|
|
670
|
|
|
‡a
Author's Mayo Clinic/Renal Pathology Society Consensus Report on Pathologic Classification, Diagnosis, and Reporting of GN
|
|
670
|
|
|
‡a
Author's Medical evaluation of pediatric hearing loss. Laboratory, radiographic, and genetic testing.
|
|
670
|
|
|
‡a
Author's Membranoproliferative glomerulonephritis secondary to monoclonal gammopathy.
|
|
670
|
|
|
‡a
Author's Mesangial immune complex glomerulonephritis due to complement factor D deficiency
|
|
670
|
|
|
‡a
Author's Microarray analysis of the effect of dexamethasone on murine cochlear explants.
|
|
670
|
|
|
‡a
Author's Microdeletion of 17q22q23.2 encompassing TBX2 and TBX4 in a patient with congenital microcephaly, thyroid duct cyst, sensorineural hearing loss, and pulmonary hypertension
|
|
670
|
|
|
‡a
Author's Middle ear adenoma with neuroendocrine differentiation (MEA-ND) in the pediatric population
|
|
670
|
|
|
‡a
Author's miRNA mutations are not a common cause of deafness.
|
|
670
|
|
|
‡a
Author's Molecular characterization of a novel X-linked syndrome involving developmental delay and deafness.
|
|
670
|
|
|
‡a
Author's Monitoring stress levels in postgraduate medical training.
|
|
670
|
|
|
‡a
Author's Mutation-agnostic RNA interference with engineered replacement rescues<i>Tmc1</i>-related hearing loss
|
|
670
|
|
|
‡a
Author's Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11
|
|
670
|
|
|
‡a
Author's Mutation in the COCH gene is associated with superior semicircular canal dehiscence
|
|
670
|
|
|
‡a
Author's Mutation of COL11A2 causes autosomal recessive non-syndromic hearing loss at the DFNB53 locus
|
|
670
|
|
|
‡a
Author's Mutation of the nuclear lamin gene LMNB2 in progressive myoclonus epilepsy with early ataxia.
|
|
670
|
|
|
‡a
Author's Mutation screening for deafness: more than simply another diagnostic test
|
|
670
|
|
|
‡a
Author's Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease
|
|
670
|
|
|
‡a
Author's Mutations in a novel gene, TMIE, are associated with hearing loss linked to the DFNB6 locus.
|
|
670
|
|
|
‡a
Author's Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13)
|
|
670
|
|
|
‡a
Author's Mutations in Complement Factor H Impair Alternative Pathway Regulation on Mouse Glomerular Endothelial Cells in Vitro
|
|
670
|
|
|
‡a
Author's Mutations in Grxcr1 are the basis for inner ear dysfunction in the pirouette mouse
|
|
670
|
|
|
‡a
Author's Mutations in LOXHD1, an evolutionarily conserved stereociliary protein, disrupt hair cell function in mice and cause progressive hearing loss in humans
|
|
670
|
|
|
‡a
Author's Mutations in LOXHD1 gene cause various types and severities of hearing loss
|
|
670
|
|
|
‡a
Author's Mutations in the first MyTH4 domain of MYO15A are a common cause of DFNB3 hearing loss.
|
|
670
|
|
|
‡a
Author's Mutations in the gamma-actin gene (ACTG1) are associated with dominant progressive deafness (DFNA20/26).
|
|
670
|
|
|
‡a
Author's Mutations in TMC1 are a common cause of DFNB7/11 hearing loss in the Iranian population.
|
|
670
|
|
|
‡a
Author's Mutations of the RDX gene cause nonsyndromic hearing loss at the DFNB24 locus
|
|
670
|
|
|
‡a
Author's MYO1F as a candidate gene for nonsyndromic deafness, DFNB15.
|
|
670
|
|
|
‡a
Author's Navigating genetic diagnostics in patients with hearing loss.
|
|
670
|
|
|
‡a
Author's New treatment options for lymphangioma in infants and children
|
|
670
|
|
|
‡a
Author's No evidence for association between the renin-angiotensin-aldosterone system and otosclerosis in a large Belgian-Dutch population.
|
|
670
|
|
|
‡a
Author's Nonsyndromic hearing impairment is associated with a mutation in DFNA5
|
|
670
|
|
|
‡a
Author's Nonsyndromic hearing loss.
|
|
670
|
|
|
‡a
Author's Nontraumatic atlantoaxial rotary subluxation in the pediatric otolaryngology patient. A report of four cases.
|
|
670
|
|
|
‡a
Author's Novel PTPRQ mutations identified in three congenital hearing loss patients with various types of hearing loss
|
|
670
|
|
|
‡a
Author's OK-432 therapy for lymphangiomas
|
|
670
|
|
|
‡a
Author's Old gene, new phenotype: splice-altering variants in CEACAM16 cause recessive non-syndromic hearing impairment
|
|
670
|
|
|
‡a
Author's One-stage repair of congenital laryngeal webs
|
|
670
|
|
|
‡a
Author's Open Access: Is There a Predator at the Door?
|
|
670
|
|
|
‡a
Author's OTOF mutations revealed by genetic analysis of hearing loss families including a potential temperature sensitive auditory neuropathy allele
|
|
670
|
|
|
‡a
Author's Otosclerosis
|
|
670
|
|
|
‡a
Author's Otosclerosis: a genetically heterogeneous disease involving at least three different genes.
|
|
670
|
|
|
‡a
Author's Overlap of ultrastructural findings in C3 glomerulonephritis and dense deposit disease
|
|
670
|
|
|
‡a
Author's Parental attitudes toward genetic testing for pediatric deafness
|
|
670
|
|
|
‡a
Author's Passage to India: The Search for Genes Causing Autosomal Recessive Nonsyndromic Hearing Loss
|
|
670
|
|
|
‡a
Author's Pathogenesis and treatment of juvenile onset recurrent respiratory papillomatosis
|
|
670
|
|
|
‡a
Author's PDZD7 and hearing loss: More than just a modifier
|
|
670
|
|
|
‡a
Author's Pediatric airway reconstruction: principles, decision-making, and outcomes at the University of Iowa hospitals and clinics
|
|
670
|
|
|
‡a
Author's Pediatric endoscopic airway management with posterior cricoid rib grafting.
|
|
670
|
|
|
‡a
Author's Pediatric exercise-induced laryngomalacia.
|
|
670
|
|
|
‡a
Author's Pediatric otolaryngologists' knowledge and understanding of genetic testing for deafness.
|
|
670
|
|
|
‡a
Author's Pelvic tilt. Intratester reliability of measuring the standing position and range of motion
|
|
670
|
|
|
‡a
Author's Pendred syndrome and DFNB4-mutation screening ofSLC26A4by denaturing high-performance liquid chromatography and the identification of eleven novel mutations
|
|
670
|
|
|
‡a
Author's Phenotypic and pathologic evaluation of the myd mouse. A candidate model for facioscapulohumeral dystrophy.
|
|
670
|
|
|
‡a
Author's Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene
|
|
670
|
|
|
‡a
Author's Polymerase chain reaction amplification of herpes simplex viral DNA from the geniculate ganglion of a patient with Bell's palsy
|
|
670
|
|
|
‡a
Author's Posterior laryngeal cleft: an analysis of ten cases
|
|
670
|
|
|
‡a
Author's Postoperative care following single-stage laryngotracheoplasty
|
|
670
|
|
|
‡a
Author's Pre-capture multiplexing improves efficiency and cost-effectiveness of targeted genomic enrichment
|
|
670
|
|
|
‡a
Author's Pre-emptive eculizumab and plasmapheresis for renal transplant in atypical hemolytic uremic syndrome
|
|
670
|
|
|
‡a
Author's Preoperative evaluation of thyroglossal duct cysts: children versus adults--is there a difference?
|
|
670
|
|
|
‡a
Author's Prestin, a cochlear motor protein, is defective in non-syndromic hearing loss
|
|
670
|
|
|
‡a
Author's Presymptomatic Diagnosis of Nonsyndromic Hearing Loss by Genotyping
|
|
670
|
|
|
‡a
Author's Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study
|
|
670
|
|
|
‡a
Author's PRIMA1 mutation: a new cause of nocturnal frontal lobe epilepsy
|
|
670
|
|
|
‡a
Author's Proliferative glomerulonephritis secondary to dysfunction of the alternative pathway of complement
|
|
670
|
|
|
‡a
Author's Promoter, alternative splice forms, and genomic structure of protocadherin 15.
|
|
670
|
|
|
‡a
Author's Rare variants in BMP2 and BMP4 found in otosclerosis patients reduce Smad signaling.
|
|
670
|
|
|
‡a
Author's Recent advances in the molecular genetics of epilepsy.
|
|
670
|
|
|
‡a
Author's Recurrent atypical hemolytic uremic syndrome associated with factor I mutation in a living related renal transplant recipient
|
|
670
|
|
|
‡a
Author's Recurrent Atypical Hemolytic Uremic Syndrome in Children With Acute Lymphoblastic Leukemia Undergoing Maintenance Chemotherapy
|
|
670
|
|
|
‡a
Author's Recurrent respiratory papillomatosis
|
|
670
|
|
|
‡a
Author's Recurrent respiratory papillomatosis: pathogenesis to treatment.
|
|
670
|
|
|
‡a
Author's Reducing the Cost of the Diagnostic Odyssey in Early Onset Epileptic Encephalopathies.
|
|
670
|
|
|
‡a
Author's Reducing the exome search space for mendelian diseases using genetic linkage analysis of exome genotypes
|
|
670
|
|
|
‡a
Author's Refinement of the DFNA4 locus to a 1.44 Mb region in 19q13.33.
|
|
670
|
|
|
‡a
Author's Refining the DFNB7-DFNB11 deafness locus using intragenic polymorphisms in a novel gene, TMEM2
|
|
670
|
|
|
‡a
Author's Reflex laryngospasm induced by stimulation of distal esophageal afferents
|
|
670
|
|
|
‡a
Author's Report on attempts to localize Usher syndrome type 1 by linkage analysis to selected candidate regions
|
|
670
|
|
|
‡a
Author's Respiratory manifestations of gastroesophageal reflux disease in pediatric patients
|
|
670
|
|
|
‡a
Author's RNA Interference Prevents Autosomal-Dominant Hearing Loss.
|
|
670
|
|
|
‡a
Author's Role of perivenous areolar tissue and recipient bed in the viability of venous flaps in the rabbit ear model
|
|
670
|
|
|
‡a
Author's Screening audiometry using the high-risk register in a level III nursery
|
|
670
|
|
|
‡a
Author's Screening of deafness-causing DNA variants that are common in patients of European ancestry using a microarray-based approach
|
|
670
|
|
|
‡a
Author's Screening of Living Kidney Donors for Genetic Diseases Using a Comprehensive Genetic Testing Strategy.
|
|
670
|
|
|
‡a
Author's Searching for evidence of DFNB2.
|
|
670
|
|
|
‡a
Author's Secondary focal and segmental glomerulosclerosis associated with single-nucleotide polymorphisms in the genes encoding complement factor H and C3.
|
|
670
|
|
|
‡a
Author's Selective cochlear degeneration in mice lacking the F-box protein, Fbx2, a glycoprotein-specific ubiquitin ligase subunit.
|
|
670
|
|
|
‡a
Author's Sensorineural deafness and male infertility: a contiguous gene deletion syndrome
|
|
670
|
|
|
‡a
Author's Sensorineural Hearing Loss: A Changing Paradigm for Its Evaluation.
|
|
670
|
|
|
‡a
Author's Sensorineural hearing loss in children.
|
|
670
|
|
|
‡a
Author's Single-nucleotide polymorphisms in the COL1A1 regulatory regions are associated with otosclerosis
|
|
670
|
|
|
‡a
Author's SIX1 mutation screening in 247 branchio-oto-renal syndrome families: a recurrent missense mutation associated with BOR.
|
|
670
|
|
|
‡a
Author's SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes
|
|
670
|
|
|
‡a
Author's Sjögren's syndrome in children
|
|
670
|
|
|
‡a
Author's Soluble c5b-9 as a biomarker for complement activation in atypical hemolytic uremic syndrome
|
|
670
|
|
|
‡a
Author's Solution-based targeted genomic enrichment for precious DNA samples
|
|
670
|
|
|
‡a
Author's Spectrum of GJB2
|
|
670
|
|
|
‡a
Author's Spectrum of GJB2 (Cx26) gene mutations in Iranian Azeri patients with nonsyndromic autosomal recessive hearing loss.
|
|
670
|
|
|
‡a
Author's Standards for ethical publication
|
|
670
|
|
|
‡a
Author's Statistical Validation of Rare Complement Variants Provides Insights into the Molecular Basis of Atypical Hemolytic Uremic Syndrome and C3 Glomerulopathy.
|
|
670
|
|
|
‡a
Author's Streptococcal infection as possible trigger for dense deposit disease (C3 glomerulopathy)
|
|
670
|
|
|
‡a
Author's Suprastomal granulation tissue and pediatric tracheotomy decannulation
|
|
670
|
|
|
‡a
Author's Surfactant protein A in rabbit sinus and middle ear mucosa
|
|
670
|
|
|
‡a
Author's Survivin expression in juvenile-onset recurrent respiratory papillomatosis.
|
|
670
|
|
|
‡a
Author's Tailored eculizumab therapy in the management of complement factor H-mediated atypical hemolytic uremic syndrome in an adult kidney transplant recipient: a case report.
|
|
670
|
|
|
‡a
Author's Targeted genomic enrichment and massively parallel sequencing identifies novel nonsyndromic hearing impairment pathogenic variants in Cameroonian families.
|
|
670
|
|
|
‡a
Author's TBC1D24 mutation causes autosomal-dominant nonsyndromic hearing loss.
|
|
670
|
|
|
‡a
Author's Temporal bone analysis of patients with presbycusis reveals high frequency of mitochondrial mutations.
|
|
670
|
|
|
‡a
Author's Temporal bone histopathology in connexin 26-related hearing loss
|
|
670
|
|
|
‡a
Author's Temporomandibular joint dysfunction in infancy
|
|
670
|
|
|
‡a
Author's The authors reply
|
|
670
|
|
|
‡a
Author's The c.-103T>C variant in the 5'-UTR of SLC26A4 gene: a pathogenic mutation or coincidental polymorphism?
|
|
670
|
|
|
‡a
Author's The Coxsackievirus and Adenovirus Receptor: a new adhesion protein in cochlear development
|
|
670
|
|
|
‡a
Author's The effect of GJB2 allele variants on performance after cochlear implantation.
|
|
670
|
|
|
‡a
Author's The effect of low-energy laser on skin-flap survival in the rat and porcine animal models
|
|
670
|
|
|
‡a
Author's The genetics of otosclerosis.
|
|
670
|
|
|
‡a
Author's The genetics of the alternative pathway of complement in the pathogenesis of HELLP syndrome.
|
|
670
|
|
|
‡a
Author's The hearing-impaired patient: what the future holds
|
|
670
|
|
|
‡a
Author's The influence of the helium-neon laser irradiation on the viability of skin flaps in the rat
|
|
670
|
|
|
‡a
Author's The mitochondrial TIM22 preprotein translocase is highly conserved throughout the eukaryotic kingdom
|
|
670
|
|
|
‡a
Author's The natural history of OTOF-related auditory neuropathy spectrum disorders: a multicenter study
|
|
670
|
|
|
‡a
Author's The prevalence of mitochondrial mutations associated with aminoglycoside-induced sensorineural hearing loss in an NICU population.
|
|
670
|
|
|
‡a
Author's The rare third branchial cleft cyst
|
|
670
|
|
|
‡a
Author's The role of complement in C3 glomerulopathy
|
|
670
|
|
|
‡a
Author's The role of connexins in human disease.
|
|
670
|
|
|
‡a
Author's The use of genetic testing in the evaluation of hearing impairment in a child.
|
|
670
|
|
|
‡a
Author's The value of resident presentations at scientific meetings
|
|
670
|
|
|
‡a
Author's Thyroid nodules in children
|
|
670
|
|
|
‡a
Author's Tracheal allograft reconstruction: the total North American and worldwide pediatric experiences
|
|
670
|
|
|
‡a
Author's Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome
|
|
670
|
|
|
‡a
Author's Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4)
|
|
670
|
|
|
‡a
Author's Treatment of lymphangiomas in children: an update of Picibanil
|
|
670
|
|
|
‡a
Author's Treatment of lymphangiomas in children: an update of Picibanil (OK-432) sclerotherapy
|
|
670
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‡a
Author's Treatment of lymphangiomas with OK-432
|
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670
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‡a
Author's Treatment of lymphangiomas with OK-432 (Picibanil) sclerotherapy: a prospective multi-institutional trial.
|
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670
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‡a
Author's Treatment of massive or life-threatening hemangiomas with recombinant alpha(2a)-interferon
|
|
670
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‡a
Author's Treatment of massive or life‐threatening hemangiomas with recombinant α2a‐interferon
|
|
670
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‡a
Author's Trends in the use of tracheotomy in the pediatric patient: The Iowa experience
|
|
670
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‡a
Author's Two frequent missense mutations in Pendred syndrome
|
|
670
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‡a
Author's Two Iranian families with a novel mutation in GJB2 causing autosomal dominant nonsyndromic hearing loss.
|
|
670
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‡a
Author's Unilateral laryngeal dysgenesis
|
|
670
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‡a
Author's Use of a three-dimensional magnetic sensor in vestibular testing
|
|
670
|
|
|
‡a
Author's Use of portfolios in otolaryngology graduate medical education.
|
|
670
|
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‡a
Author's USH2 caused by GPR98 mutation diagnosed by massively parallel sequencing in advance of the occurrence of visual symptoms
|
|
670
|
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‡a
Author's Using the phenome and genome to improve genetic diagnosis for deafness.
|
|
670
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‡a
Author's Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants.
|
|
670
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‡a
Author's Value-based pathology: a cost-benefit analysis of the examination of routine and nonroutine tonsil and adenoid specimens
|
|
670
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‡a
Author's Variants in CIB2 cause DFNB48 and not USH1J.
|
|
670
|
|
|
‡a
Author's Viral vector tropism for supporting cells in the developing murine cochlea.
|
|
670
|
|
|
‡a
Author's Vocal fold paralysis in infants twelve months of age and younger
|
|
670
|
|
|
‡a
wikidata authority control
‡u
https://viaf.org/processed/ISNI|0000000039584155
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670
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‡a
wikidata authority control
‡u
https://viaf.org/viaf/76535522
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670
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‡a
wikidata authority control
‡u
https://viaf.org/processed/LC|n 2002135486
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670
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‡a
wikidata authority control
‡u
https://viaf.org/processed/SUDOC|067404715
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909
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‡a
(scopus) 16073972500
‡9
1
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909
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‡a
(scopus) 57203381446
‡9
1
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909
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‡a
(orcid) 0000000312016731
‡9
1
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912
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‡a
internationalefforttowardsdevelopingstandardsforbestpracticesinanalysisinterpretationandreportingofclinicalgenomesequencingresultsintheclaritychallenge
‡A
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.
‡9
1
|
|
919
|
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|
‡a
constructionofp1derivedartificialchromosomeandyeastartificialchromosomecontigsencompassingthedfnb7anddfnb11regionofchromosome9q1321
‡A
Construction of P1-Derived Artificial Chromosome and Yeast Artificial Chromosome Contigs Encompassing the DFNB7 andDFNB11 Region of Chromosome 9q13–21
‡9
2
|
|
919
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|
‡a
genomicstructureandidentificationofnovelmutationsinusherinthegeneresponsibleforushersyndrometypeiia
‡A
Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa
‡9
1
|
|
919
|
|
|
‡a
genotypephenotypecorrelationsforslc26a4relateddeafness
‡A
Genotype-phenotype correlations for SLC26A4-related deafness.
‡9
1
|
|
919
|
|
|
‡a
gipc3mutationsassociatedwithaudiogenicseizuresandsensorineuralhearinglossinmouseandhuman
‡A
Gipc3 mutations associated with audiogenic seizures and sensorineural hearing loss in mouse and human.
‡9
1
|
|
919
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|
‡a
densedepositdiseaseandthefactorhh402allele
‡A
Dense deposit disease and the factor H H402 allele.
‡9
1
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|
919
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|
‡a
gjb2genemutationscausingfamilialhereditarydeafnessinturkey
‡A
GJB2 gene mutations causing familial hereditary deafness in Turkey.
‡9
1
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|
919
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|
|
‡a
densedepositdisease
‡A
Dense deposit disease.
‡9
1
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|
919
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|
‡a
gjb2mutationsanddegreeofhearinglossamulticenterstudy
‡A
GJB2 mutations and degree of hearing loss: a multicenter study
‡9
1
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|
919
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|
|
‡a
degreesofdysplasiaandtheuseofcidofovirinpatientswithrecurrentrespiratorypapillomatosis
‡A
Degrees of dysplasia and the use of cidofovir in patients with recurrent respiratory papillomatosis.
‡9
1
|
|
919
|
|
|
‡a
gjb2mutationspassagethroughiran
‡A
GJB2 mutations: passage through Iran
‡9
1
|
|
919
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|
‡a
definingthecomplementbiomarkerprofileofc3glomerulopathy
‡A
Defining the complement biomarker profile of C3 glomerulopathy
‡9
1
|
|
919
|
|
|
‡a
gjb2thespectrumofdeafnesscausingallelevariantsandtheirphenotype
‡A
GJB2: the spectrum of deafness-causing allele variants and their phenotype.
‡9
1
|
|
919
|
|
|
‡a
deafnessfrombedsidetobenchandback
‡A
Deafness: from bedside to bench and back
‡9
1
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|
919
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|
‡a
novomutationin10linkedhearinglossassociatedpou3f4inasporadiccaseofcongenitalhearingloss
‡A
De novo mutation in X-linked hearing loss-associated POU3F4 in a sporadic case of congenital hearing loss
‡9
1
|
|
919
|
|
|
‡a
cysticfibrosisanotolaryngologicperspective
‡A
Cystic fibrosis--an otolaryngologic perspective
‡9
1
|
|
919
|
|
|
‡a
currentmanagementoflaryngealandlaryngotracheoesophagealclefts
‡A
Current management of laryngeal and laryngotracheoesophageal clefts
‡9
1
|
|
919
|
|
|
‡a
grxcr2isrequiredforstereociliamorphogenesisinthecochlea
‡A
Grxcr2 is required for stereocilia morphogenesis in the cochlea
‡9
1
|
|
919
|
|
|
‡a
headbobberacombinedmorphogeneticandcochleosaccularmousemodeltostudy10qterdeletionsinhumandeafness
‡A
Headbobber: a combined morphogenetic and cochleosaccular mouse model to study 10qter deletions in human deafness
‡9
1
|
|
919
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|
‡a
hearinggenesandcisplatindeafnessapilotstudy
‡A
Hearing genes and cisplatin deafness: a pilot study.
‡9
1
|
|
919
|
|
|
‡a
hearinglosscausedbyap2rx2mutationidentifiedinamelasfamilywithacoexistingmitochondrial3243agmutation
‡A
Hearing loss caused by a P2RX2 mutation identified in a MELAS family with a coexisting mitochondrial 3243AG mutation
‡9
1
|
|
919
|
|
|
‡a
hearinglossdisordersassociatedwithrenaldisease
‡A
Hearing loss disorders associated with renal disease.
‡9
1
|
|
919
|
|
|
‡a
highfrequencyofthepr34xmutationinthetmc1geneassociatedwithnonsyndromichearinglossisduetofoundereffects
‡A
High frequency of the p.R34X mutation in the TMC1 gene associated with nonsyndromic hearing loss is due to founder effects
‡9
1
|
|
919
|
|
|
‡a
craniofacialgrowthinrabbitseffectsofmidfacialsurgicaltraumaandrigidplatefixation
‡A
Craniofacial growth in rabbits. Effects of midfacial surgical trauma and rigid plate fixation
‡9
1
|
|
919
|
|
|
‡a
craniocervicalnecrotizingfasciitis
‡A
Craniocervical necrotizing fasciitis
‡9
1
|
|
919
|
|
|
‡a
cordovawebbasedmanagementofgeneticvariationdata
‡A
Cordova: web-based management of genetic variation data
‡9
1
|
|
919
|
|
|
‡a
copynumbervariantsareacommoncauseofnonsyndromichearingloss
‡A
Copy number variants are a common cause of non-syndromic hearing loss
‡9
1
|
|
919
|
|
|
‡a
contigmapsandgenomicsequencingidentifycandidategenesintheusher1clocus
‡A
Contig Maps and Genomic Sequencing Identify Candidate Genes in the Usher 1C Locus
‡9
1
|
|
919
|
|
|
‡a
consortiumstatementthevalueofresidentpresentationsatscientificmeetings
‡A
Consortium statement. The value of resident presentations at scientific meetings.
‡9
1
|
|
919
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|
‡a
consortiumofotolaryngologyheadandnecksurgeryjournalstocollaborateinmaintenanceofhighethicalstandards
‡A
Consortium of otolaryngology-head and neck surgery journals to collaborate in maintenance of high ethical standards
‡9
1
|
|
919
|
|
|
‡a
consanguineousnuclearfamiliesusedtoidentifyanewlocusforrecessivenonsyndromichearinglosson14q
‡A
Consanguineous nuclear families used to identify a new locus for recessive non-syndromic hearing loss on 14q.
‡9
1
|
|
919
|
|
|
‡a
connexinmutationsandhearingloss
‡A
Connexin mutations and hearing loss
‡9
1
|
|
919
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|
‡a
highprevalenceofsymptomsofmenieresdiseasein3familieswithamutationinthecochgene
‡A
High prevalence of symptoms of Menière's disease in three families with a mutation in the COCH gene
‡9
1
|
|
919
|
|
|
‡a
highthroughputgenetictestingforthromboticmicroangiopathiesandc3glomerulopathies
‡A
High-Throughput Genetic Testing for Thrombotic Microangiopathies and C3 Glomerulopathies
‡9
1
|
|
919
|
|
|
‡a
congenitaloralsynechiae
‡A
Congenital oral synechiae.
‡9
1
|
|
919
|
|
|
‡a
congenitallaryngealwebssurgicalcourseandoutcomes
‡A
Congenital laryngeal webs: surgical course and outcomes
‡9
1
|
|
919
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‡a
congenitalhearingloss
‡A
Congenital hearing loss.
‡9
1
|
|
919
|
|
|
‡a
congenitalanomaliesofthelarynx
‡A
Congenital anomalies of the larynx
‡9
1
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|
919
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‡a
compstatinanalogcp40inhibitscomplementdysregulationinvitroinc3glomerulopathy
‡A
Compstatin analog Cp40 inhibits complement dysregulation in vitro in C3 glomerulopathy
‡9
1
|
|
919
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‡a
homer2astereociliaryscaffoldingproteinisessentialfornormalhearinginhumansandmice
‡A
HOMER2, a stereociliary scaffolding protein, is essential for normal hearing in humans and mice.
‡9
1
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919
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‡a
hspe7treatmentofpediatricrecurrentrespiratorypapillomatosisfinalresultsofanopenlabeltrial
‡A
HspE7 treatment of pediatric recurrent respiratory papillomatosis: final results of an open-label trial
‡9
1
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919
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|
‡a
identificationandmutationanalysisofacochlearexpressedzincfingerproteingeneatthedfnb711anddnhearinglosslocionhumanchromosome9qandmousechromosome19
‡A
Identification and mutation analysis of a cochlear-expressed, zinc finger protein gene at the DFNB7/11 and dn hearing-loss loci on human chromosome 9q and mouse chromosome 19.
‡9
1
|
|
919
|
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|
‡a
identificationofslc26a4genemutationsiniranianfamilieswithhereditaryhearingimpairment
‡A
Identification of SLC26A4 gene mutations in Iranian families with hereditary hearing impairment.
‡9
1
|
|
919
|
|
|
‡a
identificationof3noveltectamutationsiniranianfamilieswithautosomalrecessivenonsyndromichearingimpairmentatthedfnb21locus
‡A
Identification of three novel TECTA mutations in Iranian families with autosomal recessive nonsyndromic hearing impairment at the DFNB21 locus.
‡9
1
|
|
919
|
|
|
‡a
igg4relateddiseaseinanadolescentwithradiologicpathologiccorrelation
‡A
IgG4-related disease in an adolescent with radiologic-pathologic correlation
‡9
1
|
|
919
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|
‡a
impactoftympanostomytubesonchildqualityoflife
‡A
Impact of tympanostomy tubes on child quality of life.
‡9
1
|
|
919
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‡a
impairmentofslc17a8encodingvesicularglutamatetransporter3vglut3underliesnonsyndromicdeafnessdfna25andinnerhaircelldysfunctioninnullmice
‡A
Impairment of SLC17A8 encoding vesicular glutamate transporter-3, VGLUT3, underlies nonsyndromic deafness DFNA25 and inner hair cell dysfunction in null mice.
‡9
1
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|
919
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‡a
invitroandinvivosuppressionofgjb2expressionbyrnainterference
‡A
In vitro and in vivo suppression of GJB2 expression by RNA interference.
‡9
1
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|
919
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‡a
invivoelectrocochleographyinhybridcochlearimplantusersimplicatestmprss3inspiralganglionfunction
‡A
In Vivo Electrocochleography in Hybrid Cochlear Implant Users Implicates TMPRSS3 in Spiral Ganglion Function
‡9
1
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|
919
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|
‡a
inactivationofnadphoxidaseorganizer1resultsinsevereimbalance
‡A
Inactivation of NADPH oxidase organizer 1 results in severe imbalance
‡9
1
|
|
919
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‡a
incidenceofvocalfoldparalysisininfantsundergoingligationofpatentductusarteriosus
‡A
Incidence of vocal fold paralysis in infants undergoing ligation of patent ductus arteriosus.
‡9
1
|
|
919
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|
‡a
interarytenoidnotchheightrelativetothevocalfoldspilotstudy
‡A
Interarytenoid notch height relative to the vocal folds. Pilot study.
‡9
1
|
|
919
|
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|
‡a
internationalpediatricorlgroupipoglaryngomalaciaconsensusrecommendations
‡A
International Pediatric ORL Group (IPOG) laryngomalacia consensus recommendations
‡9
1
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919
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‡a
internationalpediatricotolaryngologygroupipogconsensusrecommendationshearinglossinthepediatricpatient
‡A
International Pediatric Otolaryngology Group (IPOG) consensus recommendations: Hearing loss in the pediatric patient.
‡9
1
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|
919
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‡a
intraarterialcisplatintreatmentofadenoidcysticcarcinoma
‡A
Intra-arterial cisplatin treatment of adenoid cystic carcinoma
‡9
1
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|
919
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‡a
intracellularregulomevariabilityalongtheorganofcortievidenceapproacheschallengesandperspective
‡A
Intracellular Regulome Variability Along the Organ of Corti: Evidence, Approaches, Challenges, and Perspective.
‡9
1
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|
919
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‡a
intraoperativediagnosisofprimaryciliarydyskinesia
‡A
Intraoperative diagnosis of primary ciliary dyskinesia
‡9
1
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919
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‡a
intravenousraav29injectionformurinecochleargenedelivery
‡A
Intravenous rAAV2/9 injection for murine cochlear gene delivery.
‡9
1
|
|
919
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‡a
isgenetictestingindicatedinapediatricpatientwithunilateralhearinglossorscpsinglesidedscpdeafness
‡A
Is Genetic Testing Indicated in a Pediatric Patient with Unilateral Hearing Loss or <scp>Single‐Sided</scp> Deafness?
‡9
1
|
|
919
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|
‡a
ketogenicdietanoveltreatmentforearlyepilepticencephalopathyduetopigadeficiency
‡A
Ketogenic diet - A novel treatment for early epileptic encephalopathy due to PIGA deficiency.
‡9
1
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|
919
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‡a
laryngealmotionduringexercise
‡A
Laryngeal motion during exercise
‡9
1
|
|
919
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‡a
laryngomalaciaanditstreatment
‡A
Laryngomalacia and its treatment
‡9
1
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919
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‡a
learnerautonomyindevelopingcountries
‡A
Learner Autonomy in Developing Countries
‡9
1
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919
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‡a
linkageofagenefordominantnonsyndromicdeafnesstochromosome19
‡A
Linkage of a gene for dominant non-syndromic deafness to chromosome 19.
‡9
1
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|
919
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|
‡a
linkageofushersyndrometype1geneush1btothelongarmofchromosome11
‡A
Linkage of Usher syndrome type I gene (USH1B) to the long arm of chromosome 11
‡9
1
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|
919
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‡a
linkagestudiesofushersyndrometype1exclusionresultsfromtheushersyndromeconsortium
‡A
Linkage studies of Usher syndrome type 1: exclusion results from the Usher syndrome consortium
‡9
1
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|
919
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‡a
localizationofagenefornonsyndromichearingloss
‡A
Localization of a gene for non-syndromic hearing loss
‡9
1
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|
919
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|
‡a
localizationofagenefornonsyndromichearinglossdfna5tochromosome7p15
‡A
Localization of a gene for non-syndromic hearing loss (DFNA5) to chromosome 7p15.
‡9
1
|
|
919
|
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|
‡a
localizationofageneforotosclerosistochromosome15q25q26
‡A
Localization of a gene for otosclerosis to chromosome 15q25-q26.
‡9
1
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919
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|
‡a
localizationofthegeneforfamiliallaryngealabductorparalysistochromosome6q16
‡A
Localization of the gene for familial laryngeal abductor paralysis to chromosome 6q16
‡9
1
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919
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‡a
lossoffunctionmutationsofildr1causeautosomalrecessivehearingimpairmentdfnb42
‡A
Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42
‡9
1
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919
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‡a
lymphangiomaanotolaryngologicperspective
‡A
Lymphangioma. An otolaryngologic perspective
‡9
1
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919
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‡a
lymphaticmalformations
‡A
Lymphatic malformations
‡9
1
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919
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‡a
makingsenseofnonsyndromicdeafness
‡A
Making sense of nonsyndromic deafness
‡9
1
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919
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‡a
massivelyparallelsequencingforgeneticdiagnosisofhearinglossthenewstandardofcare
‡A
Massively Parallel Sequencing for Genetic Diagnosis of Hearing Loss: The New Standard of Care
‡9
1
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919
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‡a
maternallyinheritednonsyndromichearingloss
‡A
Maternally inherited nonsyndromic hearing loss.
‡9
1
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919
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‡a
comprehensivegenetictestingwithethnicspecificfilteringbyallelefrequencyinajapanesehearinglosspopulation
‡A
Comprehensive genetic testing with ethnic-specific filtering by allele frequency in a Japanese hearing-loss population
‡9
1
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919
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‡a
comprehensivegenetictestingintheclinicalevaluationof1119patientswithhearingloss
‡A
Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss
‡9
1
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919
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‡a
mayoclinicrenalpathologysocietyconsensusreportonpathologicclassificationdiagnosisandreportingofgn
‡A
Mayo Clinic/Renal Pathology Society Consensus Report on Pathologic Classification, Diagnosis, and Reporting of GN
‡9
1
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919
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‡a
comprehensivegenetictestingforhereditaryhearinglossusingmassivelyparallelsequencing
‡A
Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing.
‡9
1
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919
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‡a
comprehensivegenetictestingfordeafnessfromfreshandarchiveddriedbloodspots
‡A
Comprehensive Genetic Testing for Deafness from Fresh and Archived Dried Blood Spots
‡9
1
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919
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‡a
comprehensivegeneticanalysisofcomplementandcoagulationgenesinatypicalhemolyticuremicsyndrome
‡A
Comprehensive genetic analysis of complement and coagulation genes in atypical hemolytic uremic syndrome
‡9
1
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919
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‡a
complementinhibitioninc3glomerulopathy
‡A
Complement inhibition in C3 glomerulopathy.
‡9
1
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919
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‡a
complementfactorhmutationsarepresentinadamts13deficientticlopidineassociatedthromboticmicroangiopathies
‡A
Complement factor H mutations are present in ADAMTS13-deficient, ticlopidine-associated thrombotic microangiopathies.
‡9
1
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919
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‡a
complementfactorbmutationsinatypicalhemolyticuremicsyndromediseaserelevantorbenign
‡A
Complement factor B mutations in atypical hemolytic uremic syndrome-disease-relevant or benign?
‡9
1
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919
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‡a
complementc3targetedtherapyreplacinglongheldassertionswithevidencebaseddiscovery
‡A
Complement C3-Targeted Therapy: Replacing Long-Held Assertions with Evidence-Based Discovery.
‡9
1
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919
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‡a
comparativelinkageanalysisandvisualizationofhighdensityoligonucleotidesnparraydata
‡A
Comparative linkage analysis and visualization of high-density oligonucleotide SNP array data
‡9
1
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919
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‡a
commentaryondysplasiainadultswithrecurrentrespiratorypapillomatosisincidenceandriskfactors
‡A
Commentary on “Dysplasia in Adults with Recurrent Respiratory Papillomatosis: Incidence and Risk Factors”
‡9
1
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919
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‡a
col1a1associationandotosclerosisametaanalysis
‡A
COL1A1 association and otosclerosis: A meta-analysis
‡9
1
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919
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|
‡a
col11a2deletionrevealsthemolecularbasisfortectorialmembranemechanicalanisotropy
‡A
Col11a2 deletion reveals the molecular basis for tectorial membrane mechanical anisotropy.
‡9
1
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919
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‡a
cochlearexpressionofadominantnegativegjb2r75wconstructdeliveredthroughtheroundwindowmembraneinmice
‡A
Cochlear expression of a dominant-negative GJB2R75W construct delivered through the round window membrane in mice.
‡9
1
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919
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|
‡a
cochrelatedautosomaldominantnonsyndromichearinglossaphenotypegenotypestudy
‡A
COCH-related autosomal dominant nonsyndromic hearing loss: a phenotype–genotype study
‡9
1
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919
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‡a
cloninggenesfornonsyndromalhearingimpairment
‡A
Cloning genes for non-syndromal hearing impairment.
‡9
1
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|
919
|
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|
‡a
clinicalfindingspathologyandoutcomesofc3gnafterkidneytransplantation
‡A
Clinical findings, pathology, and outcomes of C3GN after kidney transplantation
‡9
1
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|
919
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|
‡a
clinicalfeaturesandoutcomesof98childrenandadultswithdensedepositdisease
‡A
Clinical features and outcomes of 98 children and adults with dense deposit disease.
‡9
1
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|
919
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|
|
‡a
clinicaldiagnosisoftheushersyndromesushersyndromeconsortium
‡A
Clinical diagnosis of the Usher syndromes. Usher Syndrome Consortium
‡9
1
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|
919
|
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|
‡a
clinicalaspectsofhereditaryhearingloss
‡A
Clinical aspects of hereditary hearing loss.
‡9
1
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|
919
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‡a
cib2defectiveinisolateddeafnessiskeyforauditoryhaircellmechanotransductionandsurvival
‡A
CIB2, defective in isolated deafness, is key for auditory hair cell mechanotransduction and survival
‡9
1
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|
919
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|
‡a
chroniccoughandtonsillarhypertrophyacaseseries
‡A
Chronic cough and tonsillar hypertrophy: a case series
‡9
1
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|
919
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|
‡a
characterizationofc3inc3glomerulopathy
‡A
Characterization of C3 in C3 glomerulopathy
‡9
1
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|
919
|
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|
‡a
characterisingthespectrumofautosomalrecessivehereditaryhearinglossiniran
‡A
Characterising the spectrum of autosomal recessive hereditary hearing loss in Iran
‡9
1
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|
919
|
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|
‡a
characterisationofdrasicinthemouseinnerear
‡A
Characterisation of DRASIC in the mouse inner ear.
‡9
1
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|
919
|
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|
‡a
medicalevaluationofpediatrichearinglosslaboratoryradiographicandgenetictesting
‡A
Medical evaluation of pediatric hearing loss. Laboratory, radiographic, and genetic testing.
‡9
1
|
|
919
|
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|
‡a
membranoproliferativeglomerulonephritissecondarytomonoclonalgammopathy
‡A
Membranoproliferative glomerulonephritis secondary to monoclonal gammopathy.
‡9
1
|
|
919
|
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|
‡a
mesangialimmunecomplexglomerulonephritisduetocomplementfactor500deficiency
‡A
Mesangial immune complex glomerulonephritis due to complement factor D deficiency
‡9
1
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|
919
|
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|
‡a
microarrayanalysisoftheeffectofdexamethasoneonmurinecochlearexplants
‡A
Microarray analysis of the effect of dexamethasone on murine cochlear explants.
‡9
1
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|
919
|
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|
‡a
microdeletionof17q22q232encompassingtbx2andtbx4inapatientwithcongenitalmicrocephalythyroidductcystsensorineuralhearinglossandpulmonaryhypertension
‡A
Microdeletion of 17q22q23.2 encompassing TBX2 and TBX4 in a patient with congenital microcephaly, thyroid duct cyst, sensorineural hearing loss, and pulmonary hypertension
‡9
1
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|
919
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|
‡a
middleearadenomawithneuroendocrinedifferentiationmeandinthepediatricpopulation
‡A
Middle ear adenoma with neuroendocrine differentiation (MEA-ND) in the pediatric population
‡9
1
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|
919
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|
‡a
challengesandsolutionsforgeneidentificationinthepresenceoffamiliallocusheterogeneity
‡A
Challenges and solutions for gene identification in the presence of familial locus heterogeneity
‡9
1
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|
919
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|
‡a
cervicalvertebralanomaliesinpatientswithanomaliesoftheheadandneck
‡A
Cervical vertebral anomalies in patients with anomalies of the head and neck.
‡9
1
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|
919
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|
‡a
cdc14aphosphataseisessentialforhearingandmalefertilityinmouseandhuman
‡A
CDC14A Phosphatase is Essential for Hearing and Male Fertility in Mouse and Human.
‡9
1
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|
919
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‡a
cav32ttypecalciumchannelisrequiredforthenfatdependentsox9expressionintrachealcartilage
‡A
Cav3.2 T-type calcium channel is required for the NFAT-dependent Sox9 expression in tracheal cartilage
‡9
1
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|
919
|
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|
‡a
causesoffacialswellinginpediatricpatientscorrelationofclinicalandradiologicfindings
‡A
Causes of facial swelling in pediatric patients: correlation of clinical and radiologic findings.
‡9
1
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|
919
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|
‡a
caseofprogressivedysplasiaconcomitantwithintralesionalcidofoviradministrationforrecurrentrespiratorypapillomatosis
‡A
Case of progressive dysplasia concomitant with intralesional cidofovir administration for recurrent respiratory papillomatosis
‡9
1
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919
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|
‡a
carrierratesinthemidwesternunitedstatesforgjb2mutationscausinginheriteddeafness
‡A
Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness.
‡9
1
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|
919
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‡a
carcinoembryonicantigenrelatedcelladhesionmolecule16interactswithalphatectorinandismutatedinautosomaldominanthearinglossdfna4
‡A
Carcinoembryonic antigen-related cell adhesion molecule 16 interacts with alpha-tectorin and is mutated in autosomal dominant hearing loss (DFNA4).
‡9
1
|
|
919
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|
‡a
c4nephriticfactorsinc3glomerulopathyacaseseries
‡A
C4 Nephritic Factors in C3 Glomerulopathy: A Case Series.
‡9
1
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|
919
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|
‡a
c4glomerulopathyadiseaseentityassociatedwithc4ddeposition
‡A
C4 Glomerulopathy: A Disease Entity Associated With C4d Deposition
‡9
1
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919
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‡a
mirnamutationsarenotacommoncauseofdeafness
‡A
miRNA mutations are not a common cause of deafness.
‡9
1
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919
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|
‡a
c4densedepositdisease
‡A
C4 dense-deposit disease
‡9
1
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|
919
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|
‡a
c3glomerulopathythegeneticandclinicalfindingsindensedepositdiseaseandc3glomerulonephritis
‡A
C3 glomerulopathy: the genetic and clinical findings in dense deposit disease and C3 glomerulonephritis.
‡9
1
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|
919
|
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|
‡a
molecularcharacterizationofanovel10linkedsyndromeinvolvingdevelopmentaldelayanddeafness
‡A
Molecular characterization of a novel X-linked syndrome involving developmental delay and deafness.
‡9
1
|
|
919
|
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|
‡a
c3glomerulopathy10yearsexperienceatmayoclinic
‡A
C3 Glomerulopathy: Ten Years' Experience at Mayo Clinic
‡9
1
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|
919
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|
‡a
monitoringstresslevelsinpostgraduatemedicaltraining
‡A
Monitoring stress levels in postgraduate medical training.
‡9
1
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|
919
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|
‡a
mutationagnosticrnainterferencewithengineeredreplacementrescues1tmc11relatedhearingloss
‡A
Mutation-agnostic RNA interference with engineered replacement rescues<i>Tmc1</i>-related hearing loss
‡9
1
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|
919
|
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|
‡a
c3glomerulopathyconsensusreport
‡A
C3 glomerulopathy: consensus report
‡9
1
|
|
919
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|
‡a
c3glomerulopathyassociatedwithmonoclonaligisadistinctsubtype
‡A
C3 glomerulopathy associated with monoclonal Ig is a distinct subtype
‡9
1
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|
919
|
|
|
‡a
mutationanalysisoftmc1identifies4newmutationsandsuggestsanadditionaldeafnessgeneatlocidfna36anddfnb711
‡A
Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11
‡9
1
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|
919
|
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|
‡a
c3glomerulonephritiswithaseverecrescenticphenotype
‡A
C3 glomerulonephritis with a severe crescentic phenotype.
‡9
1
|
|
919
|
|
|
‡a
mutationinthecochgeneisassociatedwithsuperiorsemicircularcanaldehiscence
‡A
Mutation in the COCH gene is associated with superior semicircular canal dehiscence
‡9
1
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|
919
|
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|
‡a
c3glomerulonephritissecondarytomutationsinfactorshand1rapidrecurrenceindeceaseddonorkidneytransplanteffectivelytreatedwitheculizumab
‡A
C3 glomerulonephritis secondary to mutations in factors H and I: rapid recurrence in deceased donor kidney transplant effectively treated with eculizumab.
‡9
1
|
|
919
|
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|
‡a
mutationofcol11a2causesautosomalrecessivenonsyndromichearinglossatthedfnb53locus
‡A
Mutation of COL11A2 causes autosomal recessive non-syndromic hearing loss at the DFNB53 locus
‡9
1
|
|
919
|
|
|
‡a
c3glomerulonephritisassociatedwithmonoclonalgammopathyacaseseries
‡A
C3 glomerulonephritis associated with monoclonal gammopathy: a case series.
‡9
1
|
|
919
|
|
|
‡a
mutationofthenuclearlamingenelmnb2inprogressivemyoclonusepilepsywithearlyataxia
‡A
Mutation of the nuclear lamin gene LMNB2 in progressive myoclonus epilepsy with early ataxia.
‡9
1
|
|
919
|
|
|
‡a
c3glomerulonephritisassociatedwithcomplementfactorbmutation
‡A
C3 glomerulonephritis associated with complement factor B mutation
‡9
1
|
|
919
|
|
|
‡a
mutationscreeningfordeafnessmorethansimplyanotherdiagnostictest
‡A
Mutation screening for deafness: more than simply another diagnostic test
‡9
1
|
|
919
|
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|
‡a
c3glomerulonephritisandautoimmunediseasemorethanafortuitousassociation
‡A
C3 glomerulonephritis and autoimmune disease: more than a fortuitous association?
‡9
1
|
|
919
|
|
|
‡a
mutationalspectrumofthewfs1geneinwolframsyndromenonsyndromichearingimpairmentdiabetesmellitusandpsychiatricdisease
‡A
Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease
‡9
1
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|
919
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|
‡a
branchiootorenalsyndromethemutationspectrumineya1anditsphenotypicconsequences
‡A
Branchio-oto-renal syndrome: the mutation spectrum in EYA1 and its phenotypic consequences.
‡9
1
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|
919
|
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|
‡a
mutationsinanovelgenetmieareassociatedwithhearinglosslinkedtothedfnb6locus
‡A
Mutations in a novel gene, TMIE, are associated with hearing loss linked to the DFNB6 locus.
‡9
1
|
|
919
|
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|
‡a
mutationsincol11a2causenonsyndromichearinglossdfna13
‡A
Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13)
‡9
1
|
|
919
|
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|
‡a
branchiootorenalsyndromebornovelmutationsintheeya1geneandareviewofthemutationalgeneticsofbor
‡A
Branchio-oto-renal syndrome (BOR): novel mutations in the EYA1 gene, and a review of the mutational genetics of BOR.
‡9
1
|
|
919
|
|
|
‡a
branchiootorenalsyndrome
‡A
Branchio-oto-renal syndrome
‡9
1
|
|
919
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|
‡a
bipolarhookedwireelectromyographictechniqueintheevaluationofpediatricvocalcordparalysis
‡A
Bipolar hooked-wire electromyographic technique in the evaluation of pediatric vocal cord paralysis.
‡9
1
|
|
919
|
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|
‡a
bilateralpneumolabyrinthdiagnosticforoticcapsulefractureswithouthighresolutionimaging
‡A
Bilateral pneumolabyrinth diagnostic for otic capsule fractures without high-resolution imaging.
‡9
1
|
|
919
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|
‡a
mutationsincomplementfactorhimpairalternativepathwayregulationonmouseglomerularendothelialcellsinvitro
‡A
Mutations in Complement Factor H Impair Alternative Pathway Regulation on Mouse Glomerular Endothelial Cells in Vitro
‡9
1
|
|
919
|
|
|
‡a
benignmucousmembranepemphigoid
‡A
Benign mucous membrane pemphigoid
‡9
1
|
|
919
|
|
|
‡a
autosomaldominantbranchiootorenalsyndromelocalizationofadiseasegenetochromosome8qbylinkageinadutchfamily
‡A
Autosomal dominant branchio-oto-renal syndrome--localization of a disease gene to chromosome 8q by linkage in a Dutch family
‡9
1
|
|
919
|
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|
‡a
mutationsingrxcr1arethebasisforinnereardysfunctioninthepirouettemouse
‡A
Mutations in Grxcr1 are the basis for inner ear dysfunction in the pirouette mouse
‡9
1
|
|
919
|
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|
‡a
autoimmunediseaseinadfna61438familycarryinganovelmissensemutationinwfs1
‡A
Autoimmune disease in a DFNA6/14/38 family carrying a novel missense mutation in WFS1.
‡9
1
|
|
919
|
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|
‡a
mutationsinloxhd1anevolutionarilyconservedstereociliaryproteindisrupthaircellfunctioninmiceandcauseprogressivehearinglossinhumans
‡A
Mutations in LOXHD1, an evolutionarily conserved stereociliary protein, disrupt hair cell function in mice and cause progressive hearing loss in humans
‡9
1
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|
919
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|
‡a
mutationsinloxhd1genecausevarioustypesandseveritiesofhearingloss
‡A
Mutations in LOXHD1 gene cause various types and severities of hearing loss
‡9
1
|
|
919
|
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|
‡a
mutationsinthe1myth4domainofmyo15aareacommoncauseofdfnb3hearingloss
‡A
Mutations in the first MyTH4 domain of MYO15A are a common cause of DFNB3 hearing loss.
‡9
1
|
|
919
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|
‡a
mutationsinthegammaactingeneactg1areassociatedwithdominantprogressivedeafnessdfna2026
‡A
Mutations in the gamma-actin gene (ACTG1) are associated with dominant progressive deafness (DFNA20/26).
‡9
1
|
|
919
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|
‡a
mutationsintmc1areacommoncauseofdfnb711hearinglossintheiranianpopulation
‡A
Mutations in TMC1 are a common cause of DFNB7/11 hearing loss in the Iranian population.
‡9
1
|
|
919
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|
‡a
mutationsoftherdxgenecausenonsyndromichearinglossatthedfnb24locus
‡A
Mutations of the RDX gene cause nonsyndromic hearing loss at the DFNB24 locus
‡9
1
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|
919
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|
‡a
myo1fasacandidategenefornonsyndromicdeafnessdfnb15
‡A
MYO1F as a candidate gene for nonsyndromic deafness, DFNB15.
‡9
1
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|
919
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|
‡a
navigatinggeneticdiagnosticsinpatientswithhearingloss
‡A
Navigating genetic diagnostics in patients with hearing loss.
‡9
1
|
|
919
|
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|
‡a
newtreatmentoptionsforlymphangiomaininfantsandchildren
‡A
New treatment options for lymphangioma in infants and children
‡9
1
|
|
919
|
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|
‡a
noevidenceforassociationbetweenthereninangiotensinaldosteronesystemandotosclerosisinalargebelgiandutchpopulation
‡A
No evidence for association between the renin-angiotensin-aldosterone system and otosclerosis in a large Belgian-Dutch population.
‡9
1
|
|
919
|
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|
‡a
nonsyndromichearingimpairmentisassociatedwithamutationindfna5
‡A
Nonsyndromic hearing impairment is associated with a mutation in DFNA5
‡9
1
|
|
919
|
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|
‡a
nonsyndromichearingloss
‡A
Nonsyndromic hearing loss.
‡9
1
|
|
919
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|
‡a
nontraumaticatlantoaxialrotarysubluxationinthepediatricotolaryngologypatientareportof4cases
‡A
Nontraumatic atlantoaxial rotary subluxation in the pediatric otolaryngology patient. A report of four cases.
‡9
1
|
|
919
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|
‡a
novelptprqmutationsidentifiedin3congenitalhearinglosspatientswithvarioustypesofhearingloss
‡A
Novel PTPRQ mutations identified in three congenital hearing loss patients with various types of hearing loss
‡9
1
|
|
919
|
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|
‡a
ok432therapyforlymphangiomas
‡A
OK-432 therapy for lymphangiomas
‡9
1
|
|
919
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|
‡a
oldgenenewphenotypesplicealteringvariantsinceacam16causerecessivenonsyndromichearingimpairment
‡A
Old gene, new phenotype: splice-altering variants in CEACAM16 cause recessive non-syndromic hearing impairment
‡9
1
|
|
919
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|
‡a
1stagerepairofcongenitallaryngealwebs
‡A
One-stage repair of congenital laryngeal webs
‡9
1
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|
919
|
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|
‡a
openaccessisthereapredatoratthedoor
‡A
Open Access: Is There a Predator at the Door?
‡9
1
|
|
919
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|
‡a
otofmutationsrevealedbygeneticanalysisofhearinglossfamiliesincludingapotentialtemperaturesensitiveauditoryneuropathyallele
‡A
OTOF mutations revealed by genetic analysis of hearing loss families including a potential temperature sensitive auditory neuropathy allele
‡9
1
|
|
919
|
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|
‡a
otosclerosis
‡A
Otosclerosis
‡9
1
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|
919
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|
‡a
otosclerosisageneticallyheterogeneousdiseaseinvolvingatleast3differentgenes
‡A
Otosclerosis: a genetically heterogeneous disease involving at least three different genes.
‡9
1
|
|
919
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|
‡a
audioprofilingidentifiestectaandgjb2relateddeafnesssegregatinginasingleextendedpedigree
‡A
Audioprofiling identifies TECTA and GJB2-related deafness segregating in a single extended pedigree.
‡9
1
|
|
919
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|
‡a
audioprofilesurfacesthe21stcenturyaudiogram
‡A
Audioprofile Surfaces: The 21st Century Audiogram
‡9
1
|
|
919
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|
‡a
overlapofultrastructuralfindingsinc3glomerulonephritisanddensedepositdisease
‡A
Overlap of ultrastructural findings in C3 glomerulonephritis and dense deposit disease
‡9
1
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|
919
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|
‡a
audioprofiledirectedscreeningidentifiesnovelmutationsinkcnq4causinghearinglossatthedfna2locus
‡A
Audioprofile-directed screening identifies novel mutations in KCNQ4 causing hearing loss at the DFNA2 locus.
‡9
1
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|
919
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|
‡a
audiogenerefiningthenaturalhistoryofkcnq4gsdmewfs1andcochassociatedhearingloss
‡A
AudioGene: refining the natural history of KCNQ4, GSDME, WFS1, and COCH-associated hearing loss
‡9
1
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|
919
|
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|
‡a
audiogenepredictinghearinglossgenotypesfromphenotypestoguidegeneticscreening
‡A
AudioGene: predicting hearing loss genotypes from phenotypes to guide genetic screening.
‡9
1
|
|
919
|
|
|
‡a
atypicalhemolyticuremicsyndromeandc3glomerulopathyconclusionsfromakidneydiseaseimprovingglobaloutcomeskdigocontroversiesconference
‡A
Atypical hemolytic uremic syndrome and C3 glomerulopathy: conclusions from a "Kidney Disease: Improving Global Outcomes" (KDIGO) Controversies Conference.
‡9
1
|
|
919
|
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|
‡a
atypicalhemolyticuremicsyndromeandc3glomerulopathyconclusionsfromakidneydiseaseimprovingglobaloutcomes
‡A
Atypical hemolytic uremic syndrome and C3 glomerulopathy: conclusions from a "Kidney Disease: Improving Global Outcomes"
‡9
1
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|
919
|
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|
‡a
parentalattitudestowardgenetictestingforpediatricdeafness
‡A
Parental attitudes toward genetic testing for pediatric deafness
‡9
1
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|
919
|
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|
‡a
atypicalhaemolyticuraemicsyndromeduetoheterozygousmutationsofcfhcfhr13andcomplementfactorh479
‡A
Atypical haemolytic-uraemic syndrome due to heterozygous mutations of CFH/CFHR1-3 and complement factor H 479.
‡9
1
|
|
919
|
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|
‡a
passagetoindiathesearchforgenescausingautosomalrecessivenonsyndromichearingloss
‡A
Passage to India: The Search for Genes Causing Autosomal Recessive Nonsyndromic Hearing Loss
‡9
1
|
|
919
|
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|
‡a
atypicalahusstateoftheart
‡A
Atypical aHUS: State of the art.
‡9
1
|
|
919
|
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|
‡a
pathogenesisandtreatmentofjuvenileonsetrecurrentrespiratorypapillomatosis
‡A
Pathogenesis and treatment of juvenile onset recurrent respiratory papillomatosis
‡9
1
|
|
919
|
|
|
‡a
updateonthetreatmentofhemangiomasinchildrenwithinterferonalfa2a
‡A
An update on the treatment of hemangiomas in children with interferon alfa-2a
‡9
1
|
|
919
|
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|
‡a
pdzd7andhearinglossmorethanjustamodifier
‡A
PDZD7 and hearing loss: More than just a modifier
‡9
1
|
|
919
|
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|
‡a
pediatricairwayreconstructionprinciplesdecisionmakingandoutcomesattheuniversityofiowahospitalsandclinics
‡A
Pediatric airway reconstruction: principles, decision-making, and outcomes at the University of Iowa hospitals and clinics
‡9
1
|
|
919
|
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|
‡a
alternativepathwaydysfunctioninkidneydiseaseacasereportandreviewofdensedepositdiseaseandc3glomerulopathy
‡A
Alternative pathway dysfunction in kidney disease: a case report and review of dense deposit disease and C3 glomerulopathy.
‡9
1
|
|
919
|
|
|
‡a
pediatricendoscopicairwaymanagementwithposteriorcricoidribgrafting
‡A
Pediatric endoscopic airway management with posterior cricoid rib grafting.
‡9
1
|
|
919
|
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|
‡a
allelicvariantsofcomplementgenesassociatedwithdensedepositdisease
‡A
Allelic variants of complement genes associated with dense deposit disease
‡9
1
|
|
919
|
|
|
‡a
agerelatedmitochondrialdnamutationsinthehumanlarynx
‡A
Age-related mitochondrial DNA mutations in the human larynx
‡9
1
|
|
919
|
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|
‡a
pediatricexerciseinducedlaryngomalacia
‡A
Pediatric exercise-induced laryngomalacia.
‡9
1
|
|
919
|
|
|
‡a
aeroceleaftertracheocutaneousfistulaclosure
‡A
Aerocele after tracheocutaneous fistula closure
‡9
1
|
|
919
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|
‡a
pediatricotolaryngologistsknowledgeandunderstandingofgenetictestingfordeafness
‡A
Pediatric otolaryngologists' knowledge and understanding of genetic testing for deafness.
‡9
1
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|
919
|
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|
‡a
advancesinmolecularandcellulartherapiesforhearingloss
‡A
Advances in molecular and cellular therapies for hearing loss.
‡9
1
|
|
919
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|
‡a
pelvictiltintratesterreliabilityofmeasuringthestandingpositionandrangeofmotion
‡A
Pelvic tilt. Intratester reliability of measuring the standing position and range of motion
‡9
1
|
|
919
|
|
|
‡a
acyclovirinthetreatmentofrecurrentrespiratorypapillomatosisapilotstudy
‡A
Acyclovir in the treatment of recurrent respiratory papillomatosis. A pilot study
‡9
1
|
|
919
|
|
|
‡a
pendredsyndromeanddfnb4mutationscreeningofslc26a4bydenaturinghighperformanceliquidchromatographyandtheidentificationof11novelmutations
‡A
Pendred syndrome and DFNB4-mutation screening ofSLC26A4by denaturing high-performance liquid chromatography and the identification of eleven novel mutations
‡9
1
|
|
919
|
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|
‡a
synonymousvariantinmyo15aenrichedintheashkenazijewishpopulationcausesautosomalrecessivehearinglossduetoabnormalsplicing
‡A
A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing
‡9
1
|
|
919
|
|
|
‡a
phenotypicandpathologicevaluationofthemydmouseacandidatemodelforfacioscapulohumeraldystrophy
‡A
Phenotypic and pathologic evaluation of the myd mouse. A candidate model for facioscapulohumeral dystrophy.
‡9
1
|
|
919
|
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|
‡a
7locusforotosclerosisotsc7mapstochromosome6q13161
‡A
A seventh locus for otosclerosis, OTSC7, maps to chromosome 6q13-16.1.
‡9
1
|
|
919
|
|
|
‡a
phenotypicvariabilityofpatientshomozygousforthegjb2mutation35delgcannotbeexplainedbytheinfluenceof1majormodifiergene
‡A
Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene
‡9
1
|
|
919
|
|
|
‡a
2geneforotosclerosisotsc2mapstochromosome7q3436
‡A
A second gene for otosclerosis, OTSC2, maps to chromosome 7q34-36.
‡9
1
|
|
919
|
|
|
‡a
polymerasechainreactionamplificationofherpessimplexviraldnafromthegeniculateganglionofapatientwithbellspalsy
‡A
Polymerase chain reaction amplification of herpes simplex viral DNA from the geniculate ganglion of a patient with Bell's palsy
‡9
1
|
|
919
|
|
|
‡a
proposalforcomprehensivenewbornhearingscreeningtoimproveidentificationofdeafandhardofhearingchildren
‡A
A proposal for comprehensive newborn hearing screening to improve identification of deaf and hard-of-hearing children
‡9
1
|
|
919
|
|
|
‡a
posteriorlaryngealcleftananalysisof10cases
‡A
Posterior laryngeal cleft: an analysis of ten cases
‡9
1
|
|
919
|
|
|
‡a
progressreportonthelocalizationofushersyndrometype2tochromosome1q
‡A
A Progress Report on the Localization of Usher Syndrome Type II to Chromosome 1q
‡9
1
|
|
919
|
|
|
‡a
postoperativecarefollowingsinglestagelaryngotracheoplasty
‡A
Postoperative care following single-stage laryngotracheoplasty
‡9
1
|
|
919
|
|
|
‡a
novelsplicesitemutationintherdxgenecausesdfnb24hearinglossinaniranianfamily
‡A
A novel splice site mutation in the RDX gene causes DFNB24 hearing loss in an Iranian family.
‡9
1
|
|
919
|
|
|
‡a
novelsplicesitemutationineya4causesdfna10hearingloss
‡A
A novel splice site mutation in EYA4 causes DFNA10 hearing loss.
‡9
1
|
|
919
|
|
|
‡a
novelmutationinactg1causingbaraitserwintersyndromewithextremelyvariableexpressivityin3generations
‡A
A novel mutation in ACTG1 causing Baraitser-Winter syndrome with extremely variable expressivity in three generations.
‡9
1
|
|
919
|
|
|
‡a
novelmutationadjacenttothebthmousemutationinthetmc1genemakesthismouseanexcellentmodelofhumandeafnessatthedfna36locus
‡A
A novel mutation adjacent to the Bth mouse mutation in the TMC1 gene makes this mouse an excellent model of human deafness at the DFNA36 locus.
‡9
1
|
|
919
|
|
|
‡a
novellocusforautosomaldominantnonsyndromichearinglossdfna13mapstochromosome6p
‡A
A novel locus for autosomal dominant nonsyndromic hearing loss, DFNA13, maps to chromosome 6p
‡9
1
|
|
919
|
|
|
‡a
precapturemultiplexingimprovesefficiencyandcosteffectivenessoftargetedgenomicenrichment
‡A
Pre-capture multiplexing improves efficiency and cost-effectiveness of targeted genomic enrichment
‡9
1
|
|
919
|
|
|
‡a
preemptiveeculizumabandplasmapheresisforrenaltransplantinatypicalhemolyticuremicsyndrome
‡A
Pre-emptive eculizumab and plasmapheresis for renal transplant in atypical hemolytic uremic syndrome
‡9
1
|
|
919
|
|
|
‡a
preoperativeevaluationofthyroglossalductcystschildrenversusadultsisthereadifference
‡A
Preoperative evaluation of thyroglossal duct cysts: children versus adults--is there a difference?
‡9
1
|
|
919
|
|
|
‡a
noveldfnb1deletionallelesupportstheexistenceofadistantcisregulatoryregionthatcontrolsgjb2andgjb6expression
‡A
A novel DFNB1 deletion allele supports the existence of a distant cis-regulatory region that controls GJB2 and GJB6 expression.
‡9
1
|
|
919
|
|
|
‡a
noveldfna5mutationdoesnotcausehearinglossinaniranianfamily
‡A
A novel DFNA5 mutation does not cause hearing loss in an Iranian family.
‡9
1
|
|
919
|
|
|
‡a
prestinacochlearmotorproteinisdefectiveinnonsyndromichearingloss
‡A
Prestin, a cochlear motor protein, is defective in non-syndromic hearing loss
‡9
1
|
|
919
|
|
|
‡a
presymptomaticdiagnosisofnonsyndromichearinglossbygenotyping
‡A
Presymptomatic Diagnosis of Nonsyndromic Hearing Loss by Genotyping
‡9
1
|
|
919
|
|
|
‡a
prevalenceandevolutionaryoriginsofthedelgjb6d13s1830mutationinthedfnb1locusinhearingimpairedsubjectsamulticenterstudy
‡A
Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study
‡9
1
|
|
919
|
|
|
‡a
prima1mutationanewcauseofnocturnalfrontallobeepilepsy
‡A
PRIMA1 mutation: a new cause of nocturnal frontal lobe epilepsy
‡9
1
|
|
919
|
|
|
‡a
proliferativeglomerulonephritissecondarytodysfunctionofthealternativepathwayofcomplement
‡A
Proliferative glomerulonephritis secondary to dysfunction of the alternative pathway of complement
‡9
1
|
|
919
|
|
|
‡a
promoteralternativespliceformsandgenomicstructureofprotocadherin15
‡A
Promoter, alternative splice forms, and genomic structure of protocadherin 15.
‡9
1
|
|
919
|
|
|
‡a
rarevariantsinbmp2andbmp4foundinotosclerosispatientsreducesmadsignaling
‡A
Rare variants in BMP2 and BMP4 found in otosclerosis patients reduce Smad signaling.
‡9
1
|
|
919
|
|
|
‡a
recentadvancesinthemoleculargeneticsofepilepsy
‡A
Recent advances in the molecular genetics of epilepsy.
‡9
1
|
|
919
|
|
|
‡a
recurrentatypicalhemolyticuremicsyndromeassociatedwithfactor1mutationinalivingrelatedrenaltransplantrecipient
‡A
Recurrent atypical hemolytic uremic syndrome associated with factor I mutation in a living related renal transplant recipient
‡9
1
|
|
919
|
|
|
‡a
recurrentatypicalhemolyticuremicsyndromeinchildrenwithacutelymphoblasticleukemiaundergoingmaintenancechemotherapy
‡A
Recurrent Atypical Hemolytic Uremic Syndrome in Children With Acute Lymphoblastic Leukemia Undergoing Maintenance Chemotherapy
‡9
1
|
|
919
|
|
|
‡a
recurrentrespiratorypapillomatosis
‡A
Recurrent respiratory papillomatosis
‡9
1
|
|
919
|
|
|
‡a
recurrentrespiratorypapillomatosispathogenesistotreatment
‡A
Recurrent respiratory papillomatosis: pathogenesis to treatment.
‡9
1
|
|
919
|
|
|
‡a
reducingthecostofthediagnosticodysseyinearlyonsetepilepticencephalopathies
‡A
Reducing the Cost of the Diagnostic Odyssey in Early Onset Epileptic Encephalopathies.
‡9
1
|
|
919
|
|
|
‡a
reducingtheexomesearchspaceformendeliandiseasesusinggeneticlinkageanalysisofexomegenotypes
‡A
Reducing the exome search space for mendelian diseases using genetic linkage analysis of exome genotypes
‡9
1
|
|
919
|
|
|
‡a
refinementofthedfna4locustoa144mbregionin19q1333
‡A
Refinement of the DFNA4 locus to a 1.44 Mb region in 19q13.33.
‡9
1
|
|
919
|
|
|
‡a
refiningthedfnb7dfnb11deafnesslocususingintragenicpolymorphismsinanovelgenetmem2
‡A
Refining the DFNB7-DFNB11 deafness locus using intragenic polymorphisms in a novel gene, TMEM2
‡9
1
|
|
919
|
|
|
‡a
reflexlaryngospasminducedbystimulationofdistalesophagealafferents
‡A
Reflex laryngospasm induced by stimulation of distal esophageal afferents
‡9
1
|
|
919
|
|
|
‡a
reportonattemptstolocalizeushersyndrometype1bylinkageanalysistoselectedcandidateregions
‡A
Report on attempts to localize Usher syndrome type 1 by linkage analysis to selected candidate regions
‡9
1
|
|
919
|
|
|
‡a
respiratorymanifestationsofgastroesophagealrefluxdiseaseinpediatricpatients
‡A
Respiratory manifestations of gastroesophageal reflux disease in pediatric patients
‡9
1
|
|
919
|
|
|
‡a
rnainterferencepreventsautosomaldominanthearingloss
‡A
RNA Interference Prevents Autosomal-Dominant Hearing Loss.
‡9
1
|
|
919
|
|
|
‡a
roleofperivenousareolartissueandrecipientbedintheviabilityofvenousflapsintherabbitearmodel
‡A
Role of perivenous areolar tissue and recipient bed in the viability of venous flaps in the rabbit ear model
‡9
1
|
|
919
|
|
|
‡a
screeningaudiometryusingthehighriskregisterinalevel3nursery
‡A
Screening audiometry using the high-risk register in a level III nursery
‡9
1
|
|
919
|
|
|
‡a
screeningofdeafnesscausingdnavariantsthatarecommoninpatientsofeuropeanancestryusingamicroarraybasedapproach
‡A
Screening of deafness-causing DNA variants that are common in patients of European ancestry using a microarray-based approach
‡9
1
|
|
919
|
|
|
‡a
screeningoflivingkidneydonorsforgeneticdiseasesusingacomprehensivegenetictestingstrategy
‡A
Screening of Living Kidney Donors for Genetic Diseases Using a Comprehensive Genetic Testing Strategy.
‡9
1
|
|
919
|
|
|
‡a
searchingforevidenceofdfnb2
‡A
Searching for evidence of DFNB2.
‡9
1
|
|
919
|
|
|
‡a
secondaryfocalandsegmentalglomerulosclerosisassociatedwithsinglenucleotidepolymorphismsinthegenesencodingcomplementfactorhandc3
‡A
Secondary focal and segmental glomerulosclerosis associated with single-nucleotide polymorphisms in the genes encoding complement factor H and C3.
‡9
1
|
|
919
|
|
|
‡a
selectivecochleardegenerationinmicelackingthefboxproteinfbx2aglycoproteinspecificubiquitinligasesubunit
‡A
Selective cochlear degeneration in mice lacking the F-box protein, Fbx2, a glycoprotein-specific ubiquitin ligase subunit.
‡9
1
|
|
919
|
|
|
‡a
sensorineuraldeafnessandmaleinfertilityacontiguousgenedeletionsyndrome
‡A
Sensorineural deafness and male infertility: a contiguous gene deletion syndrome
‡9
1
|
|
919
|
|
|
‡a
sensorineuralhearinglossachangingparadigmforitsevaluation
‡A
Sensorineural Hearing Loss: A Changing Paradigm for Its Evaluation.
‡9
1
|
|
919
|
|
|
‡a
sensorineuralhearinglossinchildren
‡A
Sensorineural hearing loss in children.
‡9
1
|
|
919
|
|
|
‡a
singlenucleotidepolymorphismsinthecol1a1regulatoryregionsareassociatedwithotosclerosis
‡A
Single-nucleotide polymorphisms in the COL1A1 regulatory regions are associated with otosclerosis
‡9
1
|
|
919
|
|
|
‡a
six1mutationscreeningin247branchiootorenalsyndromefamiliesarecurrentmissensemutationassociatedwithbor
‡A
SIX1 mutation screening in 247 branchio-oto-renal syndrome families: a recurrent missense mutation associated with BOR.
‡9
1
|
|
943
|
|
|
‡a
200x
‡A
2009
‡9
1
|
|
946
|
|
|
‡a
b
‡9
1
|
|
996
|
|
|
‡2
NLA|000036259146
|
|
996
|
|
|
‡2
BIBSYS|10027891
|
|
996
|
|
|
‡2
BNF|12324711
|
|
996
|
|
|
‡2
LC|no 95021690
|
|
996
|
|
|
‡2
BAV|495_261938
|
|
996
|
|
|
‡2
SUDOC|08409723X
|
|
996
|
|
|
‡2
NTA|270932771
|
|
996
|
|
|
‡2
DNB|1146382294
|
|
996
|
|
|
‡2
BAV|495_261936
|
|
996
|
|
|
‡2
BAV|495_261937
|
|
996
|
|
|
‡2
BAV|495_261935
|
|
996
|
|
|
‡2
ISNI|000000002995444X
|
|
996
|
|
|
‡2
LC|n 2023034082
|
|
996
|
|
|
‡2
NLA|000035215096
|
|
996
|
|
|
‡2
LC|n 80151626
|
|
996
|
|
|
‡2
LC|n 85300364
|
|
996
|
|
|
‡2
LC|no2003029768
|
|
996
|
|
|
‡2
RERO|A000150952
|
|
996
|
|
|
‡2
J9U|987007459557605171
|
|
996
|
|
|
‡2
LC|n 85830250
|
|
996
|
|
|
‡2
CAOONL|ncf10190512
|
|
996
|
|
|
‡2
J9U|987012722616205171
|
|
996
|
|
|
‡2
LC|n 88626081
|
|
996
|
|
|
‡2
DNB|1116956993
|
|
996
|
|
|
‡2
NII|DA07243088
|
|
996
|
|
|
‡2
ISNI|0000000081436682
|
|
996
|
|
|
‡2
LC|nr 93002320
|
|
996
|
|
|
‡2
LC|n 2016188404
|
|
996
|
|
|
‡2
LC|n 88626405
|
|
996
|
|
|
‡2
NII|DA06702394
|
|
996
|
|
|
‡2
ISNI|0000000021699026
|
|
996
|
|
|
‡2
NTA|336373252
|
|
996
|
|
|
‡2
LC|nb2022014429
|
|
996
|
|
|
‡2
CAOONL|ncf10051559
|
|
996
|
|
|
‡2
LC|n 80151193
|
|
996
|
|
|
‡2
LC|no2006106764
|
|
996
|
|
|
‡2
DNB|121964167
|
|
996
|
|
|
‡2
J9U|987007273361805171
|
|
996
|
|
|
‡2
NTA|156681854
|
|
996
|
|
|
‡2
ISNI|0000000432632985
|
|
996
|
|
|
‡2
LC|nr 92021339
|
|
996
|
|
|
‡2
PLWABN|9812830408205606
|
|
996
|
|
|
‡2
LC|no 00096100
|
|
996
|
|
|
‡2
NUKAT|n 2007142716
|
|
996
|
|
|
‡2
JPG|500007817
|
|
996
|
|
|
‡2
ISNI|0000000079762622
|
|
996
|
|
|
‡2
LC|no 91021025
|
|
996
|
|
|
‡2
DBC|870979136052454
|
|
996
|
|
|
‡2
B2Q|0001548871
|
|
996
|
|
|
‡2
LC|nb2021013066
|
|
996
|
|
|
‡2
LC|no2023052816
|
|
996
|
|
|
‡2
ISNI|0000000080043473
|
|
996
|
|
|
‡2
ISNI|0000000115473976
|
|
996
|
|
|
‡2
NTA|070177864
|
|
996
|
|
|
‡2
NII|DA09070912
|
|
996
|
|
|
‡2
DNB|102592018X
|
|
996
|
|
|
‡2
SUDOC|231409095
|
|
996
|
|
|
‡2
RERO|A024019245
|
|
996
|
|
|
‡2
J9U|987007605756105171
|
|
996
|
|
|
‡2
BIBSYS|90260560
|
|
996
|
|
|
‡2
BNF|15121451
|
|
996
|
|
|
‡2
LC|no2011193440
|
|
996
|
|
|
‡2
LC|no2007075058
|
|
996
|
|
|
‡2
ISNI|0000000066470591
|
|
996
|
|
|
‡2
SUDOC|138464286
|
|
996
|
|
|
‡2
ISNI|0000000034342026
|
|
996
|
|
|
‡2
J9U|987007373946205171
|
|
996
|
|
|
‡2
ISNI|000000003554747X
|
|
996
|
|
|
‡2
ISNI|0000000434969469
|
|
996
|
|
|
‡2
BIBSYS|6003306
|
|
996
|
|
|
‡2
NUKAT|n 2016077537
|
|
996
|
|
|
‡2
SUDOC|242494757
|
|
996
|
|
|
‡2
NII|DA02454042
|
|
996
|
|
|
‡2
RERO|A012412502
|
|
996
|
|
|
‡2
NUKAT|n 2022210557
|
|
996
|
|
|
‡2
ISNI|0000000084036027
|
|
996
|
|
|
‡2
ISNI|0000000051051335
|
|
996
|
|
|
‡2
LC|n 2009063235
|
|
996
|
|
|
‡2
LC|n 2014016837
|
|
996
|
|
|
‡2
DNB|1113018631
|
|
996
|
|
|
‡2
NUKAT|n 2007084668
|
|
996
|
|
|
‡2
LC|nr2001012510
|
|
996
|
|
|
‡2
LC|n 2019023172
|
|
996
|
|
|
‡2
ISNI|0000000114950152
|
|
996
|
|
|
‡2
NUKAT|n 2023166765
|
|
996
|
|
|
‡2
NUKAT|n 99007201
|
|
996
|
|
|
‡2
SUDOC|120778351
|
|
996
|
|
|
‡2
CAOONL|ncf10299457
|
|
996
|
|
|
‡2
NLA|000057548762
|
|
996
|
|
|
‡2
BIBSYS|5099108
|
|
996
|
|
|
‡2
JPG|500198167
|
|
996
|
|
|
‡2
SUDOC|148264875
|
|
996
|
|
|
‡2
ISNI|0000000026448437
|
|
996
|
|
|
‡2
LC|n 84176275
|
|
996
|
|
|
‡2
LC|n 84142105
|
|
996
|
|
|
‡2
ISNI|0000000039397712
|
|
996
|
|
|
‡2
SUDOC|119470411
|
|
996
|
|
|
‡2
LC|n 2008074600
|
|
996
|
|
|
‡2
SUDOC|153088958
|
|
996
|
|
|
‡2
NLA|000035505888
|
|
996
|
|
|
‡2
JPG|500231485
|
|
996
|
|
|
‡2
ISNI|000000010955012X
|
|
996
|
|
|
‡2
LC|no2009001928
|
|
996
|
|
|
‡2
CAOONL|ncf11040413
|
|
996
|
|
|
‡2
LNB|LNC10-000115343
|
|
996
|
|
|
‡2
ISNI|0000000383384822
|
|
996
|
|
|
‡2
RERO|A005602687
|
|
996
|
|
|
‡2
DNB|1157564550
|
|
996
|
|
|
‡2
RERO|A014204363
|
|
996
|
|
|
‡2
NUKAT|n 2018243862
|
|
996
|
|
|
‡2
DNB|1203640234
|
|
996
|
|
|
‡2
RERO|A011034423
|
|
996
|
|
|
‡2
J9U|987007453908205171
|
|
996
|
|
|
‡2
NKC|mzk2009512875
|
|
996
|
|
|
‡2
LC|n 78052965
|
|
996
|
|
|
‡2
N6I|vtls000278350
|
|
996
|
|
|
‡2
ISNI|0000000075799874
|
|
996
|
|
|
‡2
LC|no2020115848
|
|
996
|
|
|
‡2
NII|DA05205882
|
|
996
|
|
|
‡2
LC|n 2015000686
|
|
996
|
|
|
‡2
NLA|000036020332
|
|
996
|
|
|
‡2
NTA|073772518
|
|
996
|
|
|
‡2
NTA|072736062
|
|
996
|
|
|
‡2
NTA|138936374
|
|
996
|
|
|
‡2
LC|n 88620330
|
|
996
|
|
|
‡2
SUDOC|181805774
|
|
996
|
|
|
‡2
ISNI|0000000108158986
|
|
996
|
|
|
‡2
NKC|xx0130377
|
|
996
|
|
|
‡2
ISNI|0000000381652360
|
|
996
|
|
|
‡2
NII|DA04017901
|
|
996
|
|
|
‡2
LC|no2024108893
|
|
996
|
|
|
‡2
NSK|000442872
|
|
996
|
|
|
‡2
NUKAT|n 2013184782
|
|
996
|
|
|
‡2
DNB|1043666214
|
|
996
|
|
|
‡2
SUDOC|265762286
|
|
996
|
|
|
‡2
DNB|173278841
|
|
996
|
|
|
‡2
LC|n 93803443
|
|
996
|
|
|
‡2
LC|no2002081422
|
|
996
|
|
|
‡2
DNB|1046659111
|
|
996
|
|
|
‡2
DNB|119233231
|
|
996
|
|
|
‡2
LC|nb 99144706
|
|
996
|
|
|
‡2
ISNI|000000005282693X
|
|
996
|
|
|
‡2
LC|no2010104702
|
|
996
|
|
|
‡2
SUDOC|280202806
|
|
996
|
|
|
‡2
LC|n 85269113
|
|
996
|
|
|
‡2
CAOONL|ncf11278532
|
|
996
|
|
|
‡2
CAOONL|ncf10005972
|
|
996
|
|
|
‡2
LC|no2012042538
|
|
996
|
|
|
‡2
LC|n 2024007092
|
|
996
|
|
|
‡2
DNB|138544670
|
|
996
|
|
|
‡2
LC|n 2023034072
|
|
996
|
|
|
‡2
LC|nb2008023011
|
|
996
|
|
|
‡2
ISNI|0000000113988052
|
|
996
|
|
|
‡2
LC|no2005050212
|
|
996
|
|
|
‡2
SUDOC|188776508
|
|
996
|
|
|
‡2
ISNI|0000000067535932
|
|
996
|
|
|
‡2
J9U|987007345295505171
|
|
996
|
|
|
‡2
LC|n 88033486
|
|
996
|
|
|
‡2
JPG|500117471
|
|
996
|
|
|
‡2
JPG|500091561
|
|
996
|
|
|
‡2
NTA|073768472
|
|
996
|
|
|
‡2
ISNI|0000000076616507
|
|
996
|
|
|
‡2
RERO|A003178576
|
|
996
|
|
|
‡2
ISNI|0000000399476764
|
|
996
|
|
|
‡2
LC|no2024136176
|
|
996
|
|
|
‡2
LC|no 91016343
|
|
996
|
|
|
‡2
BNF|12821572
|
|
996
|
|
|
‡2
NLA|000061541043
|
|
996
|
|
|
‡2
LC|nb2021011066
|
|
996
|
|
|
‡2
RERO|A009525538
|
|
996
|
|
|
‡2
BIBSYS|5101439
|
|
996
|
|
|
‡2
CAOONL|ncf10002121
|
|
996
|
|
|
‡2
LC|n 88631076
|
|
996
|
|
|
‡2
CAOONL|ncf10873634
|
|
996
|
|
|
‡2
SUDOC|248225006
|
|
996
|
|
|
‡2
BNF|16015583
|
|
996
|
|
|
‡2
NDL|00469576
|
|
996
|
|
|
‡2
DBC|870979136052446
|
|
996
|
|
|
‡2
LC|nb2013004438
|
|
996
|
|
|
‡2
ISNI|0000000110529985
|
|
996
|
|
|
‡2
ISNI|0000000067503447
|
|
996
|
|
|
‡2
DNB|17298629X
|
|
996
|
|
|
‡2
LC|n 2008009081
|
|
996
|
|
|
‡2
LC|n 84043704
|
|
996
|
|
|
‡2
BIBSYS|4025812
|
|
996
|
|
|
‡2
ISNI|0000000052184463
|
|
996
|
|
|
‡2
LC|no2023102897
|
|
996
|
|
|
‡2
LNB|LNC10-000098682
|
|
996
|
|
|
‡2
LC|no2011193907
|
|
996
|
|
|
‡2
NLA|000035826947
|
|
996
|
|
|
‡2
LC|no2013139057
|
|
996
|
|
|
‡2
ISNI|0000000076445218
|
|
996
|
|
|
‡2
JPG|500007821
|
|
996
|
|
|
‡2
J9U|987007275475005171
|
|
996
|
|
|
‡2
LC|n 2009020539
|
|
996
|
|
|
‡2
ISNI|0000000382729083
|
|
996
|
|
|
‡2
NII|DA05835596
|
|
996
|
|
|
‡2
NII|DA04391566
|
|
996
|
|
|
‡2
ISNI|0000000051049155
|
|
996
|
|
|
‡2
ISNI|0000000083568224
|
|
996
|
|
|
‡2
ERRR|a11998490
|
|
996
|
|
|
‡2
SUDOC|187482179
|
|
996
|
|
|
‡2
ISNI|0000000049980194
|
|
996
|
|
|
‡2
NTA|27160302X
|
|
996
|
|
|
‡2
BNCHL|10000000000000000069358
|
|
996
|
|
|
‡2
DNB|17237863X
|
|
996
|
|
|
‡2
LC|n 86040882
|
|
996
|
|
|
‡2
BIBSYS|90580001
|
|
996
|
|
|
‡2
SUDOC|279734433
|
|
996
|
|
|
‡2
LC|n 85331575
|
|
996
|
|
|
‡2
NUKAT|n 2004019728
|
|
996
|
|
|
‡2
ISNI|0000000038903783
|
|
996
|
|
|
‡2
CAOONL|ncf10337243
|
|
996
|
|
|
‡2
ISNI|0000000007821128
|
|
996
|
|
|
‡2
LC|n 2022012221
|
|
996
|
|
|
‡2
ISNI|0000000035219935
|
|
996
|
|
|
‡2
ISNI|000000005355645X
|
|
996
|
|
|
‡2
NTA|071014934
|
|
996
|
|
|
‡2
LC|no2010171558
|
|
996
|
|
|
‡2
LC|n 2010031386
|
|
996
|
|
|
‡2
NUKAT|n 2010075771
|
|
996
|
|
|
‡2
DNB|121964744
|
|
996
|
|
|
‡2
RERO|A017703755
|
|
996
|
|
|
‡2
LC|n 87100451
|
|
996
|
|
|
‡2
ISNI|000000010765032X
|
|
996
|
|
|
‡2
LC|n 80163199
|
|
996
|
|
|
‡2
CAOONL|ncf11193884
|
|
996
|
|
|
‡2
SUDOC|086043056
|
|
996
|
|
|
‡2
LC|no 92018279
|
|
996
|
|
|
‡2
DNB|1042846979
|
|
996
|
|
|
‡2
LC|nb2012005616
|
|
996
|
|
|
‡2
ISNI|0000000030607015
|
|
996
|
|
|
‡2
PLWABN|9811500150405606
|
|
996
|
|
|
‡2
NTA|156732300
|
|
996
|
|
|
‡2
W2Z|1602157054414
|
|
996
|
|
|
‡2
KRNLK|KAC200902334
|
|
996
|
|
|
‡2
ISNI|000000002845286X
|
|
996
|
|
|
‡2
ISNI|0000000455768498
|
|
996
|
|
|
‡2
ISNI|0000000354500468
|
|
996
|
|
|
‡2
NII|DA01431631
|
|
996
|
|
|
‡2
LC|n 2019033032
|
|
996
|
|
|
‡2
ISNI|0000000029579985
|
|
996
|
|
|
‡2
CAOONL|ncf10104950
|
|
996
|
|
|
‡2
NUKAT|n 2019068468
|
|
996
|
|
|
‡2
LC|no2010188175
|
|
996
|
|
|
‡2
DNB|1081925620
|
|
996
|
|
|
‡2
LC|n 79070291
|
|
996
|
|
|
‡2
DNB|122545044
|
|
996
|
|
|
‡2
CAOONL|ncf10167364
|
|
996
|
|
|
‡2
BIBSYS|7069389
|
|
997
|
|
|
‡a
0 0 lived 0 0
‡9
1
|
|
998
|
|
|
‡a
Smith, Richard J.H.
‡2
SUDOC|067404715
‡3
suggested
‡3
title: (0.89, 'genetichearingimpairment', 'geneticsofhearingimpairment')
|
|
998
|
|
|
‡a
Smith
‡b
Richard J. H.
‡2
BNF|14449778
‡3
title: (0.89, 'genetichearingimpairment', 'geneticsofhearingimpairment')
|
|
998
|
|
|
‡a
Smith, R.
‡q
(Richard)
‡2
LC|n 2002135486
‡3
suggested
‡3
title: (0.89, 'genetichearingimpairment', 'geneticsofhearingimpairment')
|
|
998
|
|
|
‡a
Smith, Richard J. H.
‡2
ISNI|0000000039584155
‡3
suggested
|
|
998
|
|
|
‡a
Smith, Richard J.H.
‡2
ISNI|0000000039584155
‡3
suggested
|
|
998
|
|
|
‡a
Smith, R.
‡2
ISNI|0000000039584155
‡3
suggested
|
|
998
|
|
|
‡a
Smith, R.
‡q
(Richard)
‡2
CAOONL|ncf10698935
‡3
title: (0.89, 'genetichearingimpairment', 'geneticsofhearingimpairment')
|
