VIAF

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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