VIAF

Virtual International Authority File

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Leader 00000nz a2200037n 45 0
001 WKP|Q85758550 (VIAF cluster) (Authority/Source Record)
003 WKP
005 20241121000225.0
008 241121nneanz||abbn n and d
035 ‎‡a (WKP)Q85758550‏
035 ‎‡a (OCoLC)Q85758550‏
100 0 ‎‡a Antonio Richieri-Costa‏ ‎‡c researcher‏ ‎‡9 en‏
375 ‎‡a 1‏ ‎‡2 iso5218‏
400 0 ‎‡a Antonio Richieri-Costa‏ ‎‡c wetenschapper‏ ‎‡9 nl‏
670 ‎‡a Author's 22q11.2 deletion syndrome in diverse populations.‏
670 ‎‡a Author's 22q11 deletion syndrome and limb anomalies: report on two Brazilian patients.‏
670 ‎‡a Author's A newly recognized syndrome of Marfanoid habitus; long face; hypotelorism; long, thin nose; long, thin hands and feet; and a specific pattern of language and learning disabilities.‏
670 ‎‡a Author's A noncoding expansion in EIF4A3 causes Richieri-Costa-Pereira syndrome, a craniofacial disorder associated with limb defects‏
670 ‎‡a Author's A novel heterozygous missense mutation G316D of SIX3 gene in a Brazilian patient with holoprosencephaly-like phenotype and Langerhans cell histiocytosis‏
670 ‎‡a Author's Achados audiológicos e eletrofisiológicos de indivíduos com a síndrome G/BBB‏
670 ‎‡a Author's [Aging and human communication]‏
670 ‎‡a Author's An unusual presentation of oculoauriculovertebral spectrum with a Tessier 30 cleft: report on two cases.‏
670 ‎‡a Author's Analysis of MLL2 gene in the first Brazilian family with Kabuki syndrome‏
670 ‎‡a Author's Ano/microphthalmia, ocular cysts, central nervous system malformations, and neuropsychological delay. Diagnostic considerations on 2 Brazilian patients‏
670 ‎‡a Author's Atypical interhemispheric fusion with a cebocephalic-like functional single nostril nose and a novel SHH mutation‏
670 ‎‡a Author's Auditory findings and electrophysiologics in individuals with G/BBB syndrome‏
670 ‎‡a Author's Birth defects in newborns and stillborns: an example of the Brazilian reality‏
670 ‎‡a Author's Cerebro-oculo-nasal syndrome: 13 new Brazilian cases.‏
670 ‎‡a Author's Cerebro-oculo-nasal syndrome, a disorder with some manifestations suggestive of the holoprosencephalic spectrum: new case and imaging review of previous cases‏
670 ‎‡a Author's Cleft lip/palate, short stature, and developmental delay in a boy with a 5.6-mb interstitial deletion involving 10p15.3p14.‏
670 ‎‡a Author's Clinical evaluation and COL2A1 gene analysis in 21 Brazilian families with Stickler syndrome: identification of novel mutations, further genotype/phenotype correlation, and its implications for the diagnosis‏
670 ‎‡a Author's Clinical findings in children with congenital anomalies and misoprostol intrauterine exposure: a study of 38 cases‏
670 ‎‡a Author's Clinical genetic study of 144 patients with nonsyndromic hearing loss‏
670 ‎‡a Author's Comparison of mutation findings in ZIC2 between microform and classical holoprosencephaly in a Brazilian cohort‏
670 ‎‡a Author's Cover Image, Volume 173A, Number 9, September 2017.‏
670 ‎‡a Author's Craniofacial morphology in patients with velocardiofacial syndrome‏
670 ‎‡a Author's Deficiency of the cytoskeletal protein SPECC1L leads to oblique facial clefting‏
670 ‎‡a Author's Dental anomalies in Richieri-Costa-Pereira syndrome‏
670 ‎‡a Author's Dominant-negative kinase domain mutations in FGFR1 can explain the clinical severity of Hartsfield syndrome‏
670 ‎‡a Author's Down syndrome in diverse populations.‏
670 ‎‡a Author's EIF4A3 deficient human iPSCs and mouse models demonstrate neural crest defects that underlie Richieri-Costa-Pereira syndrome‏
670 ‎‡a Author's Exclusion of mutations in TGIF, ALX3, and ALX4 genes in patients with the syndrome of frontonasal dysgenesis, callosal agenesis, basal encephalocele, and eye anomalies‏
670 ‎‡a Author's Fluency aspects of oral narrative task in del22q11.2 syndrome‏
670 ‎‡a Author's Frontonasal dysgenesis, first branchial arch anomalies, and pericallosal lipoma: A new subtype of frontonasal dysgenesis‏
670 ‎‡a Author's Frontonasal dysplasia, callosal agenesis, basal encephalocele, and eye anomalies syndrome with a partial 21q22.3 deletion‏
670 ‎‡a Author's Frontonasal dysplasia: clinical evaluation on audiological and brainstem electrophysiological profiles‏
670 ‎‡a Author's Frontonasal dysplasia, severe neuropsychological delay, and midline central nervous system anomalies: report of 10 Brazilian male patients.‏
670 ‎‡a Author's GLI2 mutations in four Brazilian patients: how wide is the phenotypic spectrum?‏
670 ‎‡a Author's High dosage folic acid supplementation, oral cleft recurrence and fetal growth‏
670 ‎‡a Author's Holoprosencephaly and holoprosencephaly-like phenotype and GAS1 DNA sequence changes: Report of four Brazilian patients‏
670 ‎‡a Author's Holoprosencephaly and holoprosencephaly-like phenotypes: Review of facial and molecular findings in patients from a craniofacial hospital in Brazil‏
670 ‎‡a Author's Holoprosencephaly: Clinical evaluation on audiological and brainstem electrophysiological profiles‏
670 ‎‡a Author's Holoprosencephaly, ectrodactyly, and bilateral cleft of lip and palate: exclusion of SHH, TGIF, SIX3, GLI2, TP73L, and DHCR7 as candidate genes‏
670 ‎‡a Author's Holoprosencephaly spectrum, ano/microphthalmia, and first branchial arch defects: evidence for a new disorder.‏
670 ‎‡a Author's Holoprosencephaly with microphthalmia, hypoplastic ears, vertebral segmentation defects, and congenital heart defects‏
670 ‎‡a Author's Interstitial 1q21.1 Microdeletion Is Associated with Severe Skeletal Anomalies, Dysmorphic Face and Moderate Intellectual Disability‏
670 ‎‡a Author's Language, behavior and neurodevelopment in Joubert syndrome: a case report‏
670 ‎‡a Author's Language skills and neuropsychological performance in patients with SHH mutations and a holoprosencephaly-like phenotype‏
670 ‎‡a Author's Macrostomia, preauricular tags, and external ophthalmoplegia: a new autosomal dominant syndrome within the oculoauriculovertebral spectrum?‏
670 ‎‡a Author's Mandibulofacial dysostosis Bauru type: Refining the phenotype.‏
670 ‎‡a Author's Multisystem Involvement in a Patient with a PTCH1 Mutation: Clinical and Imaging Findings‏
670 ‎‡a Author's Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes‏
670 ‎‡a Author's Newly recognized overgrowth syndrome with macrosomia, macrocrania, hyperostosis of the cranial vault, mental deficiency, seizures, poor motor control, and orofacial dyspraxia.‏
670 ‎‡a Author's Newly recognized syndrome with heminasal aplasia and ocular anomalies or wider spectrum of heminasal aplasia/atypical clefting syndrome?‏
670 ‎‡a Author's Nonprogressive congenital cerebellar ataxia, iris heterochromia, mental retardation and language impairment in two brothers.‏
670 ‎‡a Author's Nonsyndromic alar clefts: report of five Brazilian patients‏
670 ‎‡a Author's Novel mutations inIRF6in nonsyndromic cleft lip with or without cleft palate: When shouldIRF6mutational screening be done?‏
670 ‎‡a Author's Occipital atretic cephalocele, striking facial anomalies, and large feet in three siblings of a consanguineous union.‏
670 ‎‡a Author's Oculoauriculovertebral spectrum with radial defects: a new syndrome or an extension of the oculoauriculovertebral spectrum? Report of fourteen Brazilian cases and review of the literature‏
670 ‎‡a Author's Oral cleft prevention program‏
670 ‎‡a Author's Oral cleft prevention program (OCPP).‏
670 ‎‡a Author's Oral teratoma, dextrocardia, and congenital heart defect: a nonrandom association or serendipity?‏
670 ‎‡a Author's Periventricular neuronal heterotopia, oro-facio-digital anomalies, and microphthalmia. A new syndrome?‏
670 ‎‡a Author's PTCH mutations in four Brazilian patients with holoprosencephaly and in one with holoprosencephaly-like features and normal MRI‏
670 ‎‡a Author's Reply to Dr. Finsterer “Callosal Agenesis and Left Ventricular Hypertrabeculation/Noncompaction” ‏
670 ‎‡a Author's Reply to Hunter's letter on the "misuse of the descriptor" Marfanoid "".‏
670 ‎‡a Author's Richieri-Costa-Pereira syndrome: a unique acrofacial dysostosis type. An overview of the Brazilian cases‏
670 ‎‡a Author's Saethre-Chotzen syndrome, Pro136His TWIST mutation, hearing loss, and external and middle ear structural anomalies: report on a Brazilian family.‏
670 ‎‡a Author's Severe midline craniofacial anomalies: overlap with Pai syndrome‏
670 ‎‡a Author's Síndrome de Silver-Russell: relato de caso‏
670 ‎‡a Author's Single median maxillary central incisor, hypophyseal tumor, and SHH mutation‏
670 ‎‡a Author's SIX3 mutations with holoprosencephaly‏
670 ‎‡a Author's Sonic hedgehog (SHH) mutation in patients within the spectrum of holoprosencephaly.‏
670 ‎‡a Author's The Syndrome of Frontonasal Dysplasia, Callosal Agenesis, Basal Encephalocele, and Eye Anomalies - Phenotypic and Aetiological Considerations‏
670 ‎‡a Author's Tooth abnormalities and soft tissue changes in patients with velocardiofacial syndrome‏
670 ‎‡a Author's Transforming growth factor- Alpha and nonsyndromic cleft lip with or without palate in Brazilian patients: results of a large case-control study‏
670 ‎‡a Author's Unique alterations of an ultraconserved non-coding element in the 3'UTR of ZIC2 in holoprosencephaly‏
670 ‎‡a Author's Unusual phenotype in a female patient with a Gly25Ala substitution in the signal peptide region of the COL2A1 gene.‏
670 ‎‡a Author's van den Ende-Gupta syndrome of blepharophimosis, arachnodactyly, and congenital contractures‏
670 ‎‡a Author's Variable phenotypic manifestations of a K44N mutation in the TGIF gene‏
670 ‎‡a Author's Waardenburg syndrome: clinical differentiation between types I and II‏
919 ‎‡a nonprogressivecongenitalcerebellarataxiairisheterochromiamentalretardationandlanguageimpairmentin2brothers‏ ‎‡A Nonprogressive congenital cerebellar ataxia, iris heterochromia, mental retardation and language impairment in two brothers.‏ ‎‡9 1‏
919 ‎‡a 22q112deletionsyndromeindiversepopulations‏ ‎‡A 22q11.2 deletion syndrome in diverse populations.‏ ‎‡9 1‏
919 ‎‡a 22q11deletionsyndromeandlimbanomaliesreporton2brazilianpatients‏ ‎‡A 22q11 deletion syndrome and limb anomalies: report on two Brazilian patients.‏ ‎‡9 1‏
919 ‎‡a newlyrecognizedsyndromeofmarfanoidhabituslongfacehypotelorismlongthinnoselongthinhandsandfeetandaspecificpatternoflanguageandlearningdisabilities‏ ‎‡A A newly recognized syndrome of Marfanoid habitus; long face; hypotelorism; long, thin nose; long, thin hands and feet; and a specific pattern of language and learning disabilities.‏ ‎‡9 1‏
919 ‎‡a noncodingexpansionineif4a3causesrichiericostapereirasyndromeacraniofacialdisorderassociatedwithlimbdefects‏ ‎‡A A noncoding expansion in EIF4A3 causes Richieri-Costa-Pereira syndrome, a craniofacial disorder associated with limb defects‏ ‎‡9 1‏
919 ‎‡a novelheterozygousmissensemutationg316dofsix3geneinabrazilianpatientwithholoprosencephalylikephenotypeandlangerhanscellhistiocytosis‏ ‎‡A A novel heterozygous missense mutation G316D of SIX3 gene in a Brazilian patient with holoprosencephaly-like phenotype and Langerhans cell histiocytosis‏ ‎‡9 1‏
919 ‎‡a achadosaudiologicoseeletrofisiologicosdeindividuoscomasindromegbbb‏ ‎‡A Achados audiológicos e eletrofisiológicos de indivíduos com a síndrome G/BBB‏ ‎‡9 1‏
919 ‎‡a agingandhumancommunication‏ ‎‡A [Aging and human communication]‏ ‎‡9 1‏
919 ‎‡a unusualpresentationofoculoauriculovertebralspectrumwithatessier30cleftreporton2cases‏ ‎‡A An unusual presentation of oculoauriculovertebral spectrum with a Tessier 30 cleft: report on two cases.‏ ‎‡9 1‏
919 ‎‡a analysisofmll2geneinthe1brazilianfamilywithkabukisyndrome‏ ‎‡A Analysis of MLL2 gene in the first Brazilian family with Kabuki syndrome‏ ‎‡9 1‏
919 ‎‡a anomicrophthalmiaocularcystscentralnervoussystemmalformationsandneuropsychologicaldelaydiagnosticconsiderationson2brazilianpatients‏ ‎‡A Ano/microphthalmia, ocular cysts, central nervous system malformations, and neuropsychological delay. Diagnostic considerations on 2 Brazilian patients‏ ‎‡9 1‏
919 ‎‡a atypicalinterhemisphericfusionwithacebocephaliclikefunctionalsinglenostrilnoseandanovelshhmutation‏ ‎‡A Atypical interhemispheric fusion with a cebocephalic-like functional single nostril nose and a novel SHH mutation‏ ‎‡9 1‏
919 ‎‡a auditoryfindingsandelectrophysiologicsinindividualswithgbbbsyndrome‏ ‎‡A Auditory findings and electrophysiologics in individuals with G/BBB syndrome‏ ‎‡9 1‏
919 ‎‡a birthdefectsinnewbornsandstillbornsanexampleofthebrazilianreality‏ ‎‡A Birth defects in newborns and stillborns: an example of the Brazilian reality‏ ‎‡9 1‏
919 ‎‡a cerebrooculonasalsyndrome13newbraziliancases‏ ‎‡A Cerebro-oculo-nasal syndrome: 13 new Brazilian cases.‏ ‎‡9 1‏
919 ‎‡a cerebrooculonasalsyndromeadisorderwithsomemanifestationssuggestiveoftheholoprosencephalicspectrumnewcaseandimagingreviewofpreviouscases‏ ‎‡A Cerebro-oculo-nasal syndrome, a disorder with some manifestations suggestive of the holoprosencephalic spectrum: new case and imaging review of previous cases‏ ‎‡9 1‏
919 ‎‡a cleftlippalateshortstatureanddevelopmentaldelayinaboywitha56mbinterstitialdeletioninvolving10p153p14‏ ‎‡A Cleft lip/palate, short stature, and developmental delay in a boy with a 5.6-mb interstitial deletion involving 10p15.3p14.‏ ‎‡9 1‏
919 ‎‡a clinicalevaluationandcol2a1geneanalysisin21brazilianfamilieswithsticklersyndromeidentificationofnovelmutationsfurthergenotypephenotypecorrelationanditsimplicationsforthediagnosis‏ ‎‡A Clinical evaluation and COL2A1 gene analysis in 21 Brazilian families with Stickler syndrome: identification of novel mutations, further genotype/phenotype correlation, and its implications for the diagnosis‏ ‎‡9 1‏
919 ‎‡a clinicalfindingsinchildrenwithcongenitalanomaliesandmisoprostolintrauterineexposureastudyof38cases‏ ‎‡A Clinical findings in children with congenital anomalies and misoprostol intrauterine exposure: a study of 38 cases‏ ‎‡9 1‏
919 ‎‡a clinicalgeneticstudyof144patientswithnonsyndromichearingloss‏ ‎‡A Clinical genetic study of 144 patients with nonsyndromic hearing loss‏ ‎‡9 1‏
919 ‎‡a comparisonofmutationfindingsinzic2betweenmicroformandclassicalholoprosencephalyinabraziliancohort‏ ‎‡A Comparison of mutation findings in ZIC2 between microform and classical holoprosencephaly in a Brazilian cohort‏ ‎‡9 1‏
919 ‎‡a coverimagevolume173anumber9september‏ ‎‡A Cover Image, Volume 173A, Number 9, September 2017.‏ ‎‡9 1‏
919 ‎‡a craniofacialmorphologyinpatientswithvelocardiofacialsyndrome‏ ‎‡A Craniofacial morphology in patients with velocardiofacial syndrome‏ ‎‡9 1‏
919 ‎‡a deficiencyofthecytoskeletalproteinspecc1lleadstoobliquefacialclefting‏ ‎‡A Deficiency of the cytoskeletal protein SPECC1L leads to oblique facial clefting‏ ‎‡9 1‏
919 ‎‡a dentalanomaliesinrichiericostapereirasyndrome‏ ‎‡A Dental anomalies in Richieri-Costa-Pereira syndrome‏ ‎‡9 1‏
919 ‎‡a dominantnegativekinasedomainmutationsinfgfr1canexplaintheclinicalseverityofhartsfieldsyndrome‏ ‎‡A Dominant-negative kinase domain mutations in FGFR1 can explain the clinical severity of Hartsfield syndrome‏ ‎‡9 1‏
919 ‎‡a downsyndromeindiversepopulations‏ ‎‡A Down syndrome in diverse populations.‏ ‎‡9 1‏
919 ‎‡a eif4a3deficienthumanipscsandmousemodelsdemonstrateneuralcrestdefectsthatunderlierichiericostapereirasyndrome‏ ‎‡A EIF4A3 deficient human iPSCs and mouse models demonstrate neural crest defects that underlie Richieri-Costa-Pereira syndrome‏ ‎‡9 1‏
919 ‎‡a exclusionofmutationsintgifalx3andalx4genesinpatientswiththesyndromeoffrontonasaldysgenesiscallosalagenesisbasalencephaloceleandeyeanomalies‏ ‎‡A Exclusion of mutations in TGIF, ALX3, and ALX4 genes in patients with the syndrome of frontonasal dysgenesis, callosal agenesis, basal encephalocele, and eye anomalies‏ ‎‡9 1‏
919 ‎‡a fluencyaspectsoforalnarrativetaskindel22q112syndrome‏ ‎‡A Fluency aspects of oral narrative task in del22q11.2 syndrome‏ ‎‡9 1‏
919 ‎‡a frontonasaldysgenesis1branchialarchanomaliesandpericallosallipomaanewsubtypeoffrontonasaldysgenesis‏ ‎‡A Frontonasal dysgenesis, first branchial arch anomalies, and pericallosal lipoma: A new subtype of frontonasal dysgenesis‏ ‎‡9 1‏
919 ‎‡a frontonasaldysplasiacallosalagenesisbasalencephaloceleandeyeanomaliessyndromewithapartial21q223deletion‏ ‎‡A Frontonasal dysplasia, callosal agenesis, basal encephalocele, and eye anomalies syndrome with a partial 21q22.3 deletion‏ ‎‡9 1‏
919 ‎‡a frontonasaldysplasiaclinicalevaluationonaudiologicalandbrainstemelectrophysiologicalprofiles‏ ‎‡A Frontonasal dysplasia: clinical evaluation on audiological and brainstem electrophysiological profiles‏ ‎‡9 1‏
919 ‎‡a frontonasaldysplasiasevereneuropsychologicaldelayandmidlinecentralnervoussystemanomaliesreportof10brazilianmalepatients‏ ‎‡A Frontonasal dysplasia, severe neuropsychological delay, and midline central nervous system anomalies: report of 10 Brazilian male patients.‏ ‎‡9 1‏
919 ‎‡a gli2mutationsin4brazilianpatientshowwideisthephenotypicspectrum‏ ‎‡A GLI2 mutations in four Brazilian patients: how wide is the phenotypic spectrum?‏ ‎‡9 1‏
919 ‎‡a highdosagefolicacidsupplementationoralcleftrecurrenceandfetalgrowth‏ ‎‡A High dosage folic acid supplementation, oral cleft recurrence and fetal growth‏ ‎‡9 1‏
919 ‎‡a holoprosencephalyandholoprosencephalylikephenotypeandgas1dnasequencechangesreportof4brazilianpatients‏ ‎‡A Holoprosencephaly and holoprosencephaly-like phenotype and GAS1 DNA sequence changes: Report of four Brazilian patients‏ ‎‡9 1‏
919 ‎‡a holoprosencephalyandholoprosencephalylikephenotypesreviewoffacialandmolecularfindingsinpatientsfromacraniofacialhospitalinbrazil‏ ‎‡A Holoprosencephaly and holoprosencephaly-like phenotypes: Review of facial and molecular findings in patients from a craniofacial hospital in Brazil‏ ‎‡9 1‏
919 ‎‡a holoprosencephalyclinicalevaluationonaudiologicalandbrainstemelectrophysiologicalprofiles‏ ‎‡A Holoprosencephaly: Clinical evaluation on audiological and brainstem electrophysiological profiles‏ ‎‡9 1‏
919 ‎‡a holoprosencephalyectrodactylyandbilateralcleftoflipandpalateexclusionofshhtgifsix3gli2tp73landdhcr7ascandidategenes‏ ‎‡A Holoprosencephaly, ectrodactyly, and bilateral cleft of lip and palate: exclusion of SHH, TGIF, SIX3, GLI2, TP73L, and DHCR7 as candidate genes‏ ‎‡9 1‏
919 ‎‡a holoprosencephalyspectrumanomicrophthalmiaand1branchialarchdefectsevidenceforanewdisorder‏ ‎‡A Holoprosencephaly spectrum, ano/microphthalmia, and first branchial arch defects: evidence for a new disorder.‏ ‎‡9 1‏
919 ‎‡a holoprosencephalywithmicrophthalmiahypoplasticearsvertebralsegmentationdefectsandcongenitalheartdefects‏ ‎‡A Holoprosencephaly with microphthalmia, hypoplastic ears, vertebral segmentation defects, and congenital heart defects‏ ‎‡9 1‏
919 ‎‡a interstitial1q211microdeletionisassociatedwithsevereskeletalanomaliesdysmorphicfaceandmoderateintellectualdisability‏ ‎‡A Interstitial 1q21.1 Microdeletion Is Associated with Severe Skeletal Anomalies, Dysmorphic Face and Moderate Intellectual Disability‏ ‎‡9 1‏
919 ‎‡a languagebehaviorandneurodevelopmentinjoubertsyndromeacasereport‏ ‎‡A Language, behavior and neurodevelopment in Joubert syndrome: a case report‏ ‎‡9 1‏
919 ‎‡a languageskillsandneuropsychologicalperformanceinpatientswithshhmutationsandaholoprosencephalylikephenotype‏ ‎‡A Language skills and neuropsychological performance in patients with SHH mutations and a holoprosencephaly-like phenotype‏ ‎‡9 1‏
919 ‎‡a macrostomiapreauriculartagsandexternalophthalmoplegiaanewautosomaldominantsyndromewithintheoculoauriculovertebralspectrum‏ ‎‡A Macrostomia, preauricular tags, and external ophthalmoplegia: a new autosomal dominant syndrome within the oculoauriculovertebral spectrum?‏ ‎‡9 1‏
919 ‎‡a mandibulofacialdysostosisbaurutyperefiningthephenotype‏ ‎‡A Mandibulofacial dysostosis Bauru type: Refining the phenotype.‏ ‎‡9 1‏
919 ‎‡a multisysteminvolvementinapatientwithaptch1mutationclinicalandimagingfindings‏ ‎‡A Multisystem Involvement in a Patient with a PTCH1 Mutation: Clinical and Imaging Findings‏ ‎‡9 1‏
919 ‎‡a mutationsinirf6causevanderwoudeandpoplitealpterygiumsyndromes‏ ‎‡A Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes‏ ‎‡9 1‏
919 ‎‡a newlyrecognizedovergrowthsyndromewithmacrosomiamacrocraniahyperostosisofthecranialvaultmentaldeficiencyseizurespoormotorcontrolandorofacialdyspraxia‏ ‎‡A Newly recognized overgrowth syndrome with macrosomia, macrocrania, hyperostosis of the cranial vault, mental deficiency, seizures, poor motor control, and orofacial dyspraxia.‏ ‎‡9 1‏
919 ‎‡a newlyrecognizedsyndromewithheminasalaplasiaandocularanomaliesorwiderspectrumofheminasalaplasiaatypicalcleftingsyndrome‏ ‎‡A Newly recognized syndrome with heminasal aplasia and ocular anomalies or wider spectrum of heminasal aplasia/atypical clefting syndrome?‏ ‎‡9 1‏
919 ‎‡a waardenburgsyndromeclinicaldifferentiationbetweentypes1and2‏ ‎‡A Waardenburg syndrome: clinical differentiation between types I and II‏ ‎‡9 1‏
919 ‎‡a variablephenotypicmanifestationsofak44nmutationinthetgifgene‏ ‎‡A Variable phenotypic manifestations of a K44N mutation in the TGIF gene‏ ‎‡9 1‏
919 ‎‡a vandenendeguptasyndromeofblepharophimosisarachnodactylyandcongenitalcontractures‏ ‎‡A van den Ende-Gupta syndrome of blepharophimosis, arachnodactyly, and congenital contractures‏ ‎‡9 1‏
919 ‎‡a unusualphenotypeinafemalepatientwithagly25alasubstitutioninthesignalpeptideregionofthecol2a1gene‏ ‎‡A Unusual phenotype in a female patient with a Gly25Ala substitution in the signal peptide region of the COL2A1 gene.‏ ‎‡9 1‏
919 ‎‡a uniquealterationsofanultraconservednoncodingelementinthe3utrofzic2inholoprosencephaly‏ ‎‡A Unique alterations of an ultraconserved non-coding element in the 3'UTR of ZIC2 in holoprosencephaly‏ ‎‡9 1‏
919 ‎‡a transforminggrowthfactor Alpha andnonsyndromiccleftlipwithorwithoutpalateinbrazilianpatientsresultsofalargecasecontrolstudy‏ ‎‡A Transforming growth factor- Alpha and nonsyndromic cleft lip with or without palate in Brazilian patients: results of a large case-control study‏ ‎‡9 1‏
919 ‎‡a toothabnormalitiesandsofttissuechangesinpatientswithvelocardiofacialsyndrome‏ ‎‡A Tooth abnormalities and soft tissue changes in patients with velocardiofacial syndrome‏ ‎‡9 1‏
919 ‎‡a syndromeoffrontonasaldysplasiacallosalagenesisbasalencephaloceleandeyeanomaliesphenotypicandaetiologicalconsiderations‏ ‎‡A The Syndrome of Frontonasal Dysplasia, Callosal Agenesis, Basal Encephalocele, and Eye Anomalies - Phenotypic and Aetiological Considerations‏ ‎‡9 1‏
919 ‎‡a sonichedgehogshhmutationinpatientswithinthespectrumofholoprosencephaly‏ ‎‡A Sonic hedgehog (SHH) mutation in patients within the spectrum of holoprosencephaly.‏ ‎‡9 1‏
919 ‎‡a six3mutationswithholoprosencephaly‏ ‎‡A SIX3 mutations with holoprosencephaly‏ ‎‡9 1‏
919 ‎‡a singlemedianmaxillarycentralincisorhypophysealtumorandshhmutation‏ ‎‡A Single median maxillary central incisor, hypophyseal tumor, and SHH mutation‏ ‎‡9 1‏
919 ‎‡a sindromedesilverrussellrelatodecaso‏ ‎‡A Síndrome de Silver-Russell: relato de caso‏ ‎‡9 1‏
919 ‎‡a severemidlinecraniofacialanomaliesoverlapwithpaisyndrome‏ ‎‡A Severe midline craniofacial anomalies: overlap with Pai syndrome‏ ‎‡9 1‏
919 ‎‡a saethrechotzensyndromepro136histwistmutationhearinglossandexternalandmiddleearstructuralanomaliesreportonabrazilianfamily‏ ‎‡A Saethre-Chotzen syndrome, Pro136His TWIST mutation, hearing loss, and external and middle ear structural anomalies: report on a Brazilian family.‏ ‎‡9 1‏
919 ‎‡a richiericostapereirasyndromeauniqueacrofacialdysostosistypeanoverviewofthebraziliancases‏ ‎‡A Richieri-Costa-Pereira syndrome: a unique acrofacial dysostosis type. An overview of the Brazilian cases‏ ‎‡9 1‏
919 ‎‡a replytohuntersletteronthemisuseofthedescriptormarfanoid‏ ‎‡A Reply to Hunter's letter on the "misuse of the descriptor" Marfanoid "".‏ ‎‡9 1‏
919 ‎‡a replytodrfinsterercallosalagenesisandleftventricularhypertrabeculationnoncompaction‏ ‎‡A Reply to Dr. Finsterer “Callosal Agenesis and Left Ventricular Hypertrabeculation/Noncompaction” ‏ ‎‡9 1‏
919 ‎‡a ptchmutationsin4brazilianpatientswithholoprosencephalyandin1withholoprosencephalylikefeaturesandnormalmri‏ ‎‡A PTCH mutations in four Brazilian patients with holoprosencephaly and in one with holoprosencephaly-like features and normal MRI‏ ‎‡9 1‏
919 ‎‡a periventricularneuronalheterotopiaorofaciodigitalanomaliesandmicrophthalmiaanewsyndrome‏ ‎‡A Periventricular neuronal heterotopia, oro-facio-digital anomalies, and microphthalmia. A new syndrome?‏ ‎‡9 1‏
919 ‎‡a oralteratomadextrocardiaandcongenitalheartdefectanonrandomassociationorserendipity‏ ‎‡A Oral teratoma, dextrocardia, and congenital heart defect: a nonrandom association or serendipity?‏ ‎‡9 1‏
919 ‎‡a oralcleftpreventionprogramocpp‏ ‎‡A Oral cleft prevention program (OCPP).‏ ‎‡9 1‏
919 ‎‡a oralcleftpreventionprogram‏ ‎‡A Oral cleft prevention program‏ ‎‡9 1‏
919 ‎‡a oculoauriculovertebralspectrumwithradialdefectsanewsyndromeoranextensionoftheoculoauriculovertebralspectrumreportof14braziliancasesandreviewoftheliterature‏ ‎‡A Oculoauriculovertebral spectrum with radial defects: a new syndrome or an extension of the oculoauriculovertebral spectrum? Report of fourteen Brazilian cases and review of the literature‏ ‎‡9 1‏
919 ‎‡a occipitalatreticcephalocelestrikingfacialanomaliesandlargefeetin3siblingsofaconsanguineousunion‏ ‎‡A Occipital atretic cephalocele, striking facial anomalies, and large feet in three siblings of a consanguineous union.‏ ‎‡9 1‏
919 ‎‡a novelmutationsinirf6innonsyndromiccleftlipwithorwithoutcleftpalatewhenshouldirf6mutationalscreeningbedone‏ ‎‡A Novel mutations inIRF6in nonsyndromic cleft lip with or without cleft palate: When shouldIRF6mutational screening be done?‏ ‎‡9 1‏
919 ‎‡a nonsyndromicalarcleftsreportof5brazilianpatients‏ ‎‡A Nonsyndromic alar clefts: report of five Brazilian patients‏ ‎‡9 1‏
943 ‎‡a 201x‏ ‎‡A 2017‏ ‎‡9 1‏
946 ‎‡a b‏ ‎‡9 1‏
996 ‎‡2 SUDOC|08426490X‏
996 ‎‡2 LC|n 90644403‏
996 ‎‡2 PTBNP|1497115‏
996 ‎‡2 BAV|495_101602‏
996 ‎‡2 ISNI|0000000049799811‏
996 ‎‡2 SUDOC|238432823‏
996 ‎‡2 ISNI|0000000067814544‏
996 ‎‡2 LC|n 85073707‏
996 ‎‡2 NSK|000164874‏
996 ‎‡2 PTBNP|51851‏
996 ‎‡2 BNF|16655812‏
996 ‎‡2 ISNI|0000000119686899‏
996 ‎‡2 BLBNB|000166981‏
996 ‎‡2 BLBNB|000166983‏
996 ‎‡2 PTBNP|225606‏
996 ‎‡2 BNE|XX896219‏
996 ‎‡2 LC|n 81069393‏
996 ‎‡2 ISNI|0000000066385119‏
996 ‎‡2 ISNI|0000000066769016‏
996 ‎‡2 DNB|105648442X‏
996 ‎‡2 BNE|XX4687054‏
996 ‎‡2 BLBNB|000324344‏
996 ‎‡2 NTA|341216941‏
996 ‎‡2 ISNI|000000007858852X‏
996 ‎‡2 PTBNP|238113‏
996 ‎‡2 RERO|A023960491‏
996 ‎‡2 PTBNP|178742‏
996 ‎‡2 SUDOC|12220882X‏
996 ‎‡2 BAV|495_88251‏
996 ‎‡2 LC|no2001057006‏
996 ‎‡2 ISNI|0000000459618147‏
996 ‎‡2 LC|n 85181090‏
996 ‎‡2 SUDOC|137708068‏
996 ‎‡2 PTBNP|1382900‏
996 ‎‡2 DNB|1074667573‏
996 ‎‡2 PLWABN|9810568671305606‏
996 ‎‡2 RERO|A012653876‏
996 ‎‡2 BLBNB|001580862‏
996 ‎‡2 PTBNP|1250448‏
996 ‎‡2 ISNI|000000006992750X‏
996 ‎‡2 LC|n 2019251283‏
996 ‎‡2 DNB|1089137036‏
996 ‎‡2 BLBNB|000395525‏
996 ‎‡2 ISNI|0000000070323391‏
996 ‎‡2 ISNI|0000000070126021‏
996 ‎‡2 PTBNP|146149‏
996 ‎‡2 DNB|1263675581‏
996 ‎‡2 BLBNB|000544736‏
996 ‎‡2 ISNI|0000000069218367‏
996 ‎‡2 BLBNB|001531058‏
996 ‎‡2 LC|n 86853815‏
996 ‎‡2 PTBNP|278863‏
996 ‎‡2 J9U|987007500733405171‏
996 ‎‡2 SUDOC|029454603‏
996 ‎‡2 DNB|1027827578‏
996 ‎‡2 ISNI|0000000067805592‏
996 ‎‡2 NKC|ola2008474824‏
996 ‎‡2 LC|n 2010013355‏
996 ‎‡2 SUDOC|152532560‏
996 ‎‡2 LC|no2004061734‏
996 ‎‡2 PTBNP|105645‏
996 ‎‡2 NII|DA15870185‏
996 ‎‡2 PTBNP|1832161‏
996 ‎‡2 PTBNP|1604013‏
996 ‎‡2 ISNI|0000000070296178‏
996 ‎‡2 ISNI|0000000069507812‏
996 ‎‡2 BNC|981058529620406706‏
996 ‎‡2 SUDOC|084631880‏
996 ‎‡2 ISNI|0000000035279436‏
996 ‎‡2 PTBNP|237023‏
996 ‎‡2 BNE|XX1589304‏
996 ‎‡2 PTBNP|1625457‏
996 ‎‡2 DNB|1241705445‏
996 ‎‡2 ISNI|0000000070331498‏
996 ‎‡2 JPG|500036110‏
996 ‎‡2 ISNI|000000004820429X‏
996 ‎‡2 PTBNP|1844882‏
996 ‎‡2 PTBNP|207741‏
996 ‎‡2 LC|n 2023255564‏
996 ‎‡2 PTBNP|1456508‏
996 ‎‡2 DNB|1112089926‏
996 ‎‡2 ISNI|0000000110457950‏
996 ‎‡2 NUKAT|n 2016056256‏
996 ‎‡2 DNB|1306214904‏
996 ‎‡2 NII|DA17877414‏
996 ‎‡2 PTBNP|256622‏
996 ‎‡2 PTBNP|86254‏
996 ‎‡2 BLBNB|001531200‏
996 ‎‡2 PTBNP|1560383‏
996 ‎‡2 PTBNP|210139‏
996 ‎‡2 LC|n 85290809‏
996 ‎‡2 BLBNB|000167079‏
996 ‎‡2 BLBNB|000167078‏
996 ‎‡2 ISNI|0000000104612651‏
996 ‎‡2 RERO|A024392930‏
996 ‎‡2 PTBNP|230851‏
996 ‎‡2 PLWABN|9810621012605606‏
996 ‎‡2 BLBNB|000167071‏
996 ‎‡2 SUDOC|059721162‏
996 ‎‡2 BLBNB|000167076‏
996 ‎‡2 BLBNB|000167074‏
996 ‎‡2 BLBNB|000394194‏
996 ‎‡2 ISNI|0000000501305532‏
996 ‎‡2 PTBNP|1583277‏
996 ‎‡2 BNF|16119523‏
996 ‎‡2 PTBNP|91967‏
996 ‎‡2 DNB|1057607851‏
996 ‎‡2 LC|nr 91027252‏
996 ‎‡2 DNB|116689161‏
996 ‎‡2 DNB|1056674679‏
996 ‎‡2 BNC|981058604940506706‏
996 ‎‡2 BNE|XX5645537‏
996 ‎‡2 RERO|A009955484‏
996 ‎‡2 LC|n 88013596‏
996 ‎‡2 DNB|1120618282‏
996 ‎‡2 ISNI|0000000070399089‏
996 ‎‡2 SUDOC|133957276‏
996 ‎‡2 PTBNP|68037‏
996 ‎‡2 LC|no 00020458‏
996 ‎‡2 ISNI|0000000068175801‏
996 ‎‡2 ISNI|0000000122072281‏
996 ‎‡2 PTBNP|246158‏
996 ‎‡2 PTBNP|56649‏
996 ‎‡2 ISNI|0000000428327064‏
996 ‎‡2 PTBNP|1045688‏
996 ‎‡2 ISNI|0000000070415667‏
996 ‎‡2 JPG|500090188‏
996 ‎‡2 BNF|16675121‏
996 ‎‡2 BLBNB|000619174‏
996 ‎‡2 PTBNP|165774‏
996 ‎‡2 BNE|XX885522‏
996 ‎‡2 NSK|000528571‏
996 ‎‡2 BLBNB|000459959‏
996 ‎‡2 PTBNP|1121785‏
996 ‎‡2 DNB|1147170789‏
996 ‎‡2 ISNI|0000000041183553‏
996 ‎‡2 ISNI|000000005329746X‏
996 ‎‡2 PTBNP|402367‏
996 ‎‡2 PTBNP|1347482‏
996 ‎‡2 ISNI|0000000070230427‏
996 ‎‡2 PTBNP|336042‏
996 ‎‡2 LC|n 2015189198‏
996 ‎‡2 J9U|987007316475805171‏
996 ‎‡2 BNF|15068062‏
996 ‎‡2 PTBNP|51957‏
996 ‎‡2 PTBNP|316525‏
996 ‎‡2 SIMACOB|431346435‏
996 ‎‡2 ISNI|0000000068072538‏
996 ‎‡2 PTBNP|157380‏
996 ‎‡2 ISNI|0000000071506958‏
996 ‎‡2 BLBNB|000369005‏
996 ‎‡2 JPG|500069456‏
996 ‎‡2 ISNI|0000000070987622‏
996 ‎‡2 ISNI|0000000116713222‏
996 ‎‡2 PTBNP|1289094‏
996 ‎‡2 BNE|XX1109856‏
996 ‎‡2 BLBNB|000495536‏
996 ‎‡2 ISNI|000000007193408X‏
996 ‎‡2 PTBNP|143382‏
996 ‎‡2 NTA|421133570‏
996 ‎‡2 LC|n 85073244‏
996 ‎‡2 NYNYRILM|34820‏
996 ‎‡2 PTBNP|1749687‏
996 ‎‡2 ISNI|0000000071027703‏
996 ‎‡2 PTBNP|40029‏
996 ‎‡2 PTBNP|77200‏
996 ‎‡2 DNB|1027740359‏
996 ‎‡2 SUDOC|114933693‏
996 ‎‡2 ISNI|0000000120924911‏
996 ‎‡2 PLWABN|9810559894905606‏
996 ‎‡2 ISNI|0000000033656330‏
996 ‎‡2 BNC|981058516339406706‏
996 ‎‡2 ISNI|000000006867909X‏
996 ‎‡2 LC|n 85818921‏
996 ‎‡2 LC|n 83136225‏
996 ‎‡2 LC|n 87853693‏
996 ‎‡2 ISNI|0000000069084696‏
996 ‎‡2 JPG|500299233‏
996 ‎‡2 PTBNP|1858636‏
996 ‎‡2 DNB|1026900662‏
996 ‎‡2 BNE|XX885223‏
996 ‎‡2 PTBNP|1305565‏
996 ‎‡2 LC|no2013114101‏
996 ‎‡2 NUKAT|n 2010105851‏
996 ‎‡2 SUDOC|031862888‏
996 ‎‡2 ISNI|0000000070122493‏
996 ‎‡2 PTBNP|1706833‏
996 ‎‡2 DNB|1146200994‏
996 ‎‡2 LC|n 2007209773‏
996 ‎‡2 LC|nb2010029608‏
996 ‎‡2 NKC|hka20181007305‏
996 ‎‡2 PTBNP|1196682‏
996 ‎‡2 ISNI|0000000067434939‏
996 ‎‡2 NUKAT|nx2023700021‏
996 ‎‡2 PTBNP|202083‏
996 ‎‡2 BLBNB|000166978‏
996 ‎‡2 SUDOC|129326615‏
996 ‎‡2 LC|no2002107736‏
996 ‎‡2 ISNI|0000000467839214‏
996 ‎‡2 PTBNP|1671552‏
996 ‎‡2 J9U|987007450464305171‏
996 ‎‡2 LC|no 00024962‏
996 ‎‡2 DNB|173506615‏
996 ‎‡2 PTBNP|1464303‏
996 ‎‡2 BLBNB|000559700‏
996 ‎‡2 BLBNB|000436477‏
996 ‎‡2 ISNI|0000000071001597‏
996 ‎‡2 PTBNP|225251‏
996 ‎‡2 PTBNP|1851644‏
996 ‎‡2 BIBSYS|90937239‏
996 ‎‡2 ISNI|0000000021242595‏
996 ‎‡2 PLWABN|9812627974405606‏
996 ‎‡2 ISNI|0000000116037826‏
996 ‎‡2 ISNI|0000000066402310‏
996 ‎‡2 NTA|339886994‏
996 ‎‡2 PTBNP|1869926‏
996 ‎‡2 PTBNP|51662‏
996 ‎‡2 ISNI|0000000069202306‏
996 ‎‡2 PTBNP|51665‏
996 ‎‡2 ISNI|0000000385409608‏
996 ‎‡2 PTBNP|51667‏
996 ‎‡2 BAV|495_88329‏
996 ‎‡2 PTBNP|51669‏
996 ‎‡2 BIBSYS|90355882‏
996 ‎‡2 RERO|A027523287‏
996 ‎‡2 PTBNP|279312‏
996 ‎‡2 ICCU|CFIV154817‏
996 ‎‡2 DNB|1240292457‏
996 ‎‡2 DNB|1053089074‏
996 ‎‡2 DNB|1074701429‏
996 ‎‡2 NTA|306145863‏
996 ‎‡2 PTBNP|165825‏
996 ‎‡2 LC|no2020028129‏
996 ‎‡2 ISNI|0000000110698535‏
996 ‎‡2 PTBNP|282296‏
996 ‎‡2 ISNI|0000000069315423‏
996 ‎‡2 DNB|1160632294‏
996 ‎‡2 LC|n 2009213610‏
996 ‎‡2 RERO|A022899748‏
996 ‎‡2 LC|n 86114157‏
996 ‎‡2 ISNI|0000000080908852‏
996 ‎‡2 ISNI|0000000068115577‏
996 ‎‡2 BLBNB|000167069‏
996 ‎‡2 BLBNB|000702171‏
996 ‎‡2 PTBNP|1660420‏
996 ‎‡2 NUKAT|n 2008111299‏
996 ‎‡2 ISNI|0000000070193849‏
996 ‎‡2 LC|n 2008215576‏
996 ‎‡2 BLBNB|000591047‏
996 ‎‡2 LC|no2023118281‏
997 ‎‡a 0 0 lived 0 0‏ ‎‡9 1‏