VIAF

Virtual International Authority File

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Leader 00000nz a2200037n 45 0
001 WKP|Q117273917 (VIAF cluster) (Authority/Source Record)
003 WKP
005 20241221010803.0
008 241221nneanz||abbn n and d
035 ‎‡a (WKP)Q117273917‏
035 ‎‡a (OCoLC)Q117273917‏
100 0 ‎‡a Elise Schaefer‏ ‎‡c researcher‏ ‎‡9 en‏
670 ‎‡a Author's A New SLC10A7 Homozygous Missense Mutation Responsible for a Milder Phenotype of Skeletal Dysplasia With Amelogenesis Imperfecta.‏
670 ‎‡a Author's Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues‏
670 ‎‡a Author's Anatomical and functional abnormalities on MRI in kabuki syndrome.‏
670 ‎‡a Author's Arterial tortuosity syndrome: 40 new families and literature review‏
670 ‎‡a Author's Authors' response to the letter to the editor "Left ventricular noncompaction associated with a compound heterozygous MYBPC3 mutation" ‏
670 ‎‡a Author's Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndrome.‏
670 ‎‡a Author's Autosomal recessive primary microcephaly due to ASPM mutations: An update‏
670 ‎‡a Author's Bardet-Biedl syndrome: Antenatal presentation of forty-five fetuses with biallelic pathogenic variants in known Bardet-Biedl syndrome genes‏
670 ‎‡a Author's Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11‏
670 ‎‡a Author's COL2A1 gene disruption by a balanced translocation t‏
670 ‎‡a Author's COL2A1 gene disruption by a balanced translocation t(12;15)(q13;q22.2) in familial Stickler syndrome.‏
670 ‎‡a Author's Correction: Arterial tortuosity syndrome: 40 new families and literature review‏
670 ‎‡a Author's Defining the phenotypic spectrum of SLC6A1 mutations‏
670 ‎‡a Author's Delineating syndrome: From congenital microcephaly to hyperkinetic encephalopathy‏
670 ‎‡a Author's Diagnostic strategy in segmentation defect of the vertebrae: a retrospective study of 73 patients‏
670 ‎‡a Author's Disease-causing variants in TCF4 are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosis.‏
670 ‎‡a Author's Exome sequencing identifies mutations in LZTFL1, a BBSome and smoothened trafficking regulator, in a family with Bardet--Biedl syndrome with situs inversus and insertional polydactyly‏
670 ‎‡a Author's Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1‏
670 ‎‡a Author's Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18)‏
670 ‎‡a Author's Finger creases lend a hand in Kabuki syndrome.‏
670 ‎‡a Author's Highly active spore biocatalyst by self-assembly of co-expressed anchoring scaffoldin and multimeric enzyme‏
670 ‎‡a Author's Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development.‏
670 ‎‡a Author's Identification and Characterization of Known Biallelic Mutations in the‏
670 ‎‡a Author's Identification and Characterization of Known Biallelic Mutations in the () Gene in a Novel Family With Bardet-Biedl Syndrome‏
670 ‎‡a Author's Identification of a novel mutation confirms the implication of IFT172‏
670 ‎‡a Author's Identification of a novel mutation confirms the implication of IFT172 (BBS20) in Bardet-Biedl syndrome.‏
670 ‎‡a Author's Long term follow up of two independent patients with Schinzel-Giedion carrying SETBP1 mutations.‏
670 ‎‡a Author's Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypes‏
670 ‎‡a Author's MSX2 Gene Duplication in a Patient with Eye Development Defects.‏
670 ‎‡a Author's Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.‏
670 ‎‡a Author's Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis‏
670 ‎‡a Author's Mutations in the ERCC2‏
670 ‎‡a Author's Mutations in the ERCC2 (XPD) gene associated with severe fetal ichthyosis and dysmorphic features.‏
670 ‎‡a Author's Neural tube defects: the experience of the registry of congenital malformations of Alsace, France, 1995-2009.‏
670 ‎‡a Author's New insights into genotype-phenotype correlation for GLI3 mutations‏
670 ‎‡a Author's Next-generation sequencing (NGS) as a fast molecular diagnosis tool for left ventricular noncompaction in an infant with compound mutations in the MYBPC3 gene‏
670 ‎‡a Author's Predominantly Cone-System Dysfunction as Rare Form of Retinal Degeneration in Patients With Molecularly Confirmed Bardet-Biedl Syndrome‏
670 ‎‡a Author's Primary Osteoporosis in Young Adults: Genetic Basis and Identification of Novel Variants in Causal Genes‏
670 ‎‡a Author's Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation‏
670 ‎‡a Author's Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnoses.‏
670 ‎‡a Author's Sex chromosome aneuploidies and copy-number variants: a further explanation for neurodevelopmental prognosis variability?‏
670 ‎‡a Author's Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract‏
670 ‎‡a Author's Treacher Collins syndrome: a clinical and molecular study based on a large series of patients.‏
670 ‎‡a Author's Whole-genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140‏
919 ‎‡a newslc10a7homozygousmissensemutationresponsibleforamilderphenotypeofskeletaldysplasiawithamelogenesisimperfecta‏ ‎‡A A New SLC10A7 Homozygous Missense Mutation Responsible for a Milder Phenotype of Skeletal Dysplasia With Amelogenesis Imperfecta.‏ ‎‡9 1‏
919 ‎‡a affectedfemalecarriersofmtm1mutationsdisplayawidespectrumofclinicalandpathologicalinvolvementdelineatingdiagnosticclues‏ ‎‡A Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues‏ ‎‡9 1‏
919 ‎‡a anatomicalandfunctionalabnormalitiesonmriinkabukisyndrome‏ ‎‡A Anatomical and functional abnormalities on MRI in kabuki syndrome.‏ ‎‡9 1‏
919 ‎‡a arterialtortuositysyndrome40newfamiliesandliteraturereview‏ ‎‡A Arterial tortuosity syndrome: 40 new families and literature review‏ ‎‡9 1‏
919 ‎‡a authorsresponsetothelettertotheeditorleftventricularnoncompactionassociatedwithacompoundheterozygousmybpc3mutation‏ ‎‡A Authors' response to the letter to the editor "Left ventricular noncompaction associated with a compound heterozygous MYBPC3 mutation" ‏ ‎‡9 1‏
919 ‎‡a autosomalrecessivepolr1dmutationwithdecreaseoftcof1mrnaisresponsiblefortreachercollinssyndrome‏ ‎‡A Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndrome.‏ ‎‡9 1‏
919 ‎‡a autosomalrecessiveprimarymicrocephalyduetoaspmmutationsanupdate‏ ‎‡A Autosomal recessive primary microcephaly due to ASPM mutations: An update‏ ‎‡9 1‏
919 ‎‡a bardetbiedlsyndromeantenatalpresentationofforty5fetuseswithbiallelicpathogenicvariantsinknownbardetbiedlsyndromegenes‏ ‎‡A Bardet-Biedl syndrome: Antenatal presentation of forty-five fetuses with biallelic pathogenic variants in known Bardet-Biedl syndrome genes‏ ‎‡9 1‏
919 ‎‡a clinicalandmolecularfindingsin39patientswithkbgsyndromecausedbydeletionormutationofankrd11‏ ‎‡A Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11‏ ‎‡9 1‏
919 ‎‡a col2a1genedisruptionbyabalancedtranslocationt‏ ‎‡A COL2A1 gene disruption by a balanced translocation t‏ ‎‡9 1‏
919 ‎‡a col2a1genedisruptionbyabalancedtranslocationt1215q13q222infamilialsticklersyndrome‏ ‎‡A COL2A1 gene disruption by a balanced translocation t(12;15)(q13;q22.2) in familial Stickler syndrome.‏ ‎‡9 1‏
919 ‎‡a correctionarterialtortuositysyndrome40newfamiliesandliteraturereview‏ ‎‡A Correction: Arterial tortuosity syndrome: 40 new families and literature review‏ ‎‡9 1‏
919 ‎‡a definingthephenotypicspectrumofslc6a1mutations‏ ‎‡A Defining the phenotypic spectrum of SLC6A1 mutations‏ ‎‡9 1‏
919 ‎‡a delineatingsyndromefromcongenitalmicrocephalytohyperkineticencephalopathy‏ ‎‡A Delineating syndrome: From congenital microcephaly to hyperkinetic encephalopathy‏ ‎‡9 1‏
919 ‎‡a diagnosticstrategyinsegmentationdefectofthevertebraearetrospectivestudyof73patients‏ ‎‡A Diagnostic strategy in segmentation defect of the vertebrae: a retrospective study of 73 patients‏ ‎‡9 1‏
919 ‎‡a diseasecausingvariantsintcf4areafrequentcauseofintellectualdisabilitylessonsfromlargescalesequencingapproachesindiagnosis‏ ‎‡A Disease-causing variants in TCF4 are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosis.‏ ‎‡9 1‏
919 ‎‡a exomesequencingidentifiesmutationsinlztfl1abbsomeandsmoothenedtraffickingregulatorinafamilywithbardetbiedlsyndromewithsitusinversusandinsertionalpolydactyly‏ ‎‡A Exome sequencing identifies mutations in LZTFL1, a BBSome and smoothened trafficking regulator, in a family with Bardet--Biedl syndrome with situs inversus and insertional polydactyly‏ ‎‡9 1‏
919 ‎‡a exomesequencingofbardetbiedlsyndromepatientidentifiesanullmutationinthebbsomesubunitbbip1‏ ‎‡A Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1‏ ‎‡9 1‏
919 ‎‡a exomesequencingofbardetbiedlsyndromepatientidentifiesanullmutationinthebbsomesubunitbbip1bbs18‏ ‎‡A Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18)‏ ‎‡9 1‏
919 ‎‡a fingercreaseslendahandinkabukisyndrome‏ ‎‡A Finger creases lend a hand in Kabuki syndrome.‏ ‎‡9 1‏
919 ‎‡a highlyactivesporebiocatalystbyselfassemblyofcoexpressedanchoringscaffoldinandmultimericenzyme‏ ‎‡A Highly active spore biocatalyst by self-assembly of co-expressed anchoring scaffoldin and multimeric enzyme‏ ‎‡9 1‏
919 ‎‡a homozygoustruncatingvariantsintbc1d23causepontocerebellarhypoplasiaandaltercorticaldevelopment‏ ‎‡A Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development.‏ ‎‡9 1‏
919 ‎‡a identificationandcharacterizationofknownbiallelicmutationsinthe‏ ‎‡A Identification and Characterization of Known Biallelic Mutations in the‏ ‎‡9 1‏
919 ‎‡a identificationandcharacterizationofknownbiallelicmutationsinthegeneinanovelfamilywithbardetbiedlsyndrome‏ ‎‡A Identification and Characterization of Known Biallelic Mutations in the () Gene in a Novel Family With Bardet-Biedl Syndrome‏ ‎‡9 1‏
919 ‎‡a identificationofanovelmutationconfirmstheimplicationofift172‏ ‎‡A Identification of a novel mutation confirms the implication of IFT172‏ ‎‡9 1‏
919 ‎‡a identificationofanovelmutationconfirmstheimplicationofift172bbs20inbardetbiedlsyndrome‏ ‎‡A Identification of a novel mutation confirms the implication of IFT172 (BBS20) in Bardet-Biedl syndrome.‏ ‎‡9 1‏
919 ‎‡a longtermfollowupof2independentpatientswithschinzelgiedioncarryingsetbp1mutations‏ ‎‡A Long term follow up of two independent patients with Schinzel-Giedion carrying SETBP1 mutations.‏ ‎‡9 1‏
919 ‎‡a moleculardiagnosisrevealsgeneticheterogeneityfortheoverlappingmkksandbbsphenotypes‏ ‎‡A Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypes‏ ‎‡9 1‏
919 ‎‡a msx2geneduplicationinapatientwitheyedevelopmentdefects‏ ‎‡A MSX2 Gene Duplication in a Patient with Eye Development Defects.‏ ‎‡9 1‏
919 ‎‡a mutationspectruminthelargegtpasedynamin2andgenotypephenotypecorrelationinautosomaldominantcentronuclearmyopathy‏ ‎‡A Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.‏ ‎‡9 1‏
919 ‎‡a mutationsinhistoneacetylasemodifierbrpf1causeanautosomaldominantformofintellectualdisabilitywithassociatedptosis‏ ‎‡A Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis‏ ‎‡9 1‏
919 ‎‡a mutationsintheercc2‏ ‎‡A Mutations in the ERCC2‏ ‎‡9 1‏
919 ‎‡a mutationsintheercc2xpdgeneassociatedwithseverefetalichthyosisanddysmorphicfeatures‏ ‎‡A Mutations in the ERCC2 (XPD) gene associated with severe fetal ichthyosis and dysmorphic features.‏ ‎‡9 1‏
919 ‎‡a neuraltubedefectstheexperienceoftheregistryofcongenitalmalformationsofalsacefrance1995‏ ‎‡A Neural tube defects: the experience of the registry of congenital malformations of Alsace, France, 1995-2009.‏ ‎‡9 1‏
919 ‎‡a newinsightsintogenotypephenotypecorrelationforgli3mutations‏ ‎‡A New insights into genotype-phenotype correlation for GLI3 mutations‏ ‎‡9 1‏
919 ‎‡a nextgenerationsequencingngsasafastmoleculardiagnosistoolforleftventricularnoncompactioninaninfantwithcompoundmutationsinthemybpc3gene‏ ‎‡A Next-generation sequencing (NGS) as a fast molecular diagnosis tool for left ventricular noncompaction in an infant with compound mutations in the MYBPC3 gene‏ ‎‡9 1‏
919 ‎‡a predominantlyconesystemdysfunctionasrareformofretinaldegenerationinpatientswithmolecularlyconfirmedbardetbiedlsyndrome‏ ‎‡A Predominantly Cone-System Dysfunction as Rare Form of Retinal Degeneration in Patients With Molecularly Confirmed Bardet-Biedl Syndrome‏ ‎‡9 1‏
919 ‎‡a primaryosteoporosisinyoungadultsgeneticbasisandidentificationofnovelvariantsincausalgenes‏ ‎‡A Primary Osteoporosis in Young Adults: Genetic Basis and Identification of Novel Variants in Causal Genes‏ ‎‡9 1‏
919 ‎‡a raredenovomissensevariantsinrnahelicaseddx6causeintellectualdisabilityanddysmorphicfeaturesandleadtopbodydefectsandrnadysregulation‏ ‎‡A Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation‏ ‎‡9 1‏
919 ‎‡a reducingdiagnosticturnaroundtimesofexomesequencingforfamiliesrequiringtimelydiagnoses‏ ‎‡A Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnoses.‏ ‎‡9 1‏
919 ‎‡a sexchromosomeaneuploidiesandcopynumbervariantsafurtherexplanationforneurodevelopmentalprognosisvariability‏ ‎‡A Sex chromosome aneuploidies and copy-number variants: a further explanation for neurodevelopmental prognosis variability?‏ ‎‡9 1‏
919 ‎‡a targetedexomesequencingidentifiespbx1asinvolvedinmonogeniccongenitalanomaliesofthekidneyandurinarytract‏ ‎‡A Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract‏ ‎‡9 1‏
919 ‎‡a treachercollinssyndromeaclinicalandmolecularstudybasedonalargeseriesofpatients‏ ‎‡A Treacher Collins syndrome: a clinical and molecular study based on a large series of patients.‏ ‎‡9 1‏
919 ‎‡a wholegenomesequencinginpatientswithciliopathiesuncoversanovelrecurrenttandemduplicationinift140‏ ‎‡A Whole-genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140‏ ‎‡9 1‏
943 ‎‡a 200x‏ ‎‡A 2009‏ ‎‡9 1‏
996 ‎‡2 NTA|287932761‏
996 ‎‡2 DNB|117098752‏
996 ‎‡2 DNB|125428022‏
996 ‎‡2 DNB|117096695‏
996 ‎‡2 DNB|1330454979‏
996 ‎‡2 RERO|A013826979‏
996 ‎‡2 DNB|130441945‏
996 ‎‡2 DE633|pe30048241‏
996 ‎‡2 DNB|128127414‏
996 ‎‡2 DNB|139494464‏
996 ‎‡2 DNB|138662975‏
996 ‎‡2 BIBSYS|90776613‏
996 ‎‡2 ISNI|0000000013951420‏
996 ‎‡2 DNB|1294347721‏
996 ‎‡2 DNB|1145159257‏
996 ‎‡2 ISNI|0000000064400012‏
996 ‎‡2 LC|no 95011548‏
996 ‎‡2 DNB|1150668636‏
996 ‎‡2 DNB|1146679580‏
996 ‎‡2 DNB|1142820823‏
996 ‎‡2 DNB|1243857463‏
996 ‎‡2 DNB|1156971608‏
996 ‎‡2 DNB|1332517145‏
996 ‎‡2 DNB|1027606695‏
996 ‎‡2 DNB|142672785‏
996 ‎‡2 BNF|16947324‏
996 ‎‡2 DNB|1157284817‏
996 ‎‡2 SUDOC|123555914‏
996 ‎‡2 ISNI|0000000397170366‏
996 ‎‡2 SZ|1142820823‏
996 ‎‡2 DNB|104137665‏
996 ‎‡2 ISNI|0000000024805656‏
996 ‎‡2 DNB|1027131700‏
996 ‎‡2 LC|n 77006361‏
996 ‎‡2 SUDOC|155701509‏
996 ‎‡2 DNB|1205613331‏
996 ‎‡2 DNB|1057767190‏
996 ‎‡2 DNB|1051037212‏
996 ‎‡2 J9U|987007340118505171‏
996 ‎‡2 NUKAT|n 2019049236‏
996 ‎‡2 LC|n 2003031828‏
996 ‎‡2 BIBSYS|3028559‏
996 ‎‡2 DNB|1055069488‏
996 ‎‡2 LC|n 2011023759‏
997 ‎‡a 0 0 lived 0 0‏ ‎‡9 1‏