VIAF

Virtual International Authority File

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Leader 00000nz a2200037n 45 0
001 WKP|Q109802679 (VIAF cluster) (Authority/Source Record)
003 WKP
005 20241121000242.0
008 241121nneanz||abbn n and d
035 ‎‡a (WKP)Q109802679‏
035 ‎‡a (OCoLC)Q109802679‏
100 0 ‎‡a Christian Becker‏ ‎‡9 fr‏ ‎‡9 nl‏
375 ‎‡a 1‏ ‎‡2 iso5218‏
400 0 ‎‡a Christian Becker‏ ‎‡c Person‏ ‎‡9 de‏
400 0 ‎‡a Christian Becker‏ ‎‡c person‏ ‎‡9 en‏
670 ‎‡a Author's A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease‏
670 ‎‡a Author's A novel mutation in the Espin gene causes autosomal recessive nonsyndromic hearing loss but no apparent vestibular dysfunction in a Moroccan family.‏
670 ‎‡a Author's A systematic approach to mapping recessive disease genes in individuals from outbred populations‏
670 ‎‡a Author's A systematic comparison of two new releases of exome sequencing products: the aim of use determines the choice of product‏
670 ‎‡a Author's An evaluation of the genetic-matched pair study design using genome-wide SNP data from the European population‏
670 ‎‡a Author's Application of genomewide SNP arrays for detection of simulated susceptibility loci.‏
670 ‎‡a Author's Assessing the enrichment performance in targeted resequencing experiments‏
670 ‎‡a Author's Association of the 867Asp variant of the human anion exchanger 3 gene with common subtypes of idiopathic generalized epilepsy‏
670 ‎‡a Author's CD74-NRG1 fusions in lung adenocarcinoma‏
670 ‎‡a Author's Clinal distribution of human genomic diversity across the Netherlands despite archaeological evidence for genetic discontinuities in Dutch population history‏
670 ‎‡a Author's Comprehensive genomic profiles of small cell lung cancer‏
670 ‎‡a Author's COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness‏
670 ‎‡a Author's Correlation between genetic and geographic structure in Europe‏
670 ‎‡a Author's Demographic history of Oceania inferred from genome-wide data‏
670 ‎‡a Author's Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation.‏
670 ‎‡a Author's Failure to replicate an allelic association between an exon 8 polymorphism of the human Alpha ‏
670 ‎‡a Author's Failure to replicate an allelic association between an exon 8 polymorphism of the human Alpha (1A) calcium channel gene and common syndromes of idiopathic generalized epilepsy.‏
670 ‎‡a Author's Faulty initiation of proteoglycan synthesis causes cardiac and joint defects‏
670 ‎‡a Author's Gene locus ambiguity in posterior urethral valves/prune-belly syndrome.‏
670 ‎‡a Author's Genome-wide association study with DNA pooling identifies variants at CNTNAP2 associated with pseudoexfoliation syndrome‏
670 ‎‡a Author's Genome-wide linkage analysis is a powerful prenatal diagnostic tool in families with unknown genetic defects‏
670 ‎‡a Author's Genome-wide linkage analysis of malaria infection intensity and mild disease‏
670 ‎‡a Author's Genome-wide single-nucleotide polymorphism arrays demonstrate high fidelity of multiple displacement-based whole-genome amplification.‏
670 ‎‡a Author's Genome-wide SNP-based linkage scan identifies a locus on 8q24 for an age-related hearing impairment trait‏
670 ‎‡a Author's Haplotypes and SNPs in 13 lipid-relevant genes explain most of the genetic variance in high-density lipoprotein and low-density lipoprotein cholesterol‏
670 ‎‡a Author's Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism‏
670 ‎‡a Author's Identification of novel fusion genes in lung cancer using breakpoint assembly of transcriptome sequencing data‏
670 ‎‡a Author's Identification of novel mutations in X-linked retinitis pigmentosa families and implications for diagnostic testing‏
670 ‎‡a Author's Integrative genome analyses identify key somatic driver mutations of small-cell lung cancer‏
670 ‎‡a Author's Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis‏
670 ‎‡a Author's Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia‏
670 ‎‡a Author's LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome‏
670 ‎‡a Author's Molecular karyotyping in patients with mental retardation using 100K single-nucleotide polymorphism arrays‏
670 ‎‡a Author's Mutations in different components of FGF signaling in LADD syndrome‏
670 ‎‡a Author's Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2‏
670 ‎‡a Author's Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy‏
670 ‎‡a Author's Mutations in SPINT2 cause a syndromic form of congenital sodium diarrhea‏
670 ‎‡a Author's Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation‏
670 ‎‡a Author's Mutations in the lipoma HMGIC fusion partner-like 5‏
670 ‎‡a Author's Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss‏
670 ‎‡a Author's Mutations of theCEP290gene encoding a centrosomal protein cause Meckel-Gruber syndrome‏
670 ‎‡a Author's New universal primers facilitate Pyrosequencing‏
670 ‎‡a Author's Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible‏
670 ‎‡a Author's Refinement of the MYP3 locus on human chromosome 12 in a German family with Mendelian autosomal dominant high-grade myopia by SNP array mapping.‏
670 ‎‡a Author's Skeletal dysplasia in a consanguineous clan from the island of Nias/Indonesia is caused by a novel mutation in B3GAT3‏
670 ‎‡a Author's SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly‏
670 ‎‡a Author's Systematic association mapping identifies NELL1 as a novel IBD disease gene‏
670 ‎‡a Author's TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone‏
670 ‎‡a Author's tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia‏
670 ‎‡a Author's Truncating mutation of the DFNB59 gene causes cochlear hearing impairment and central vestibular dysfunction‏
912 ‎‡a integrativegenomeanalysesidentifykeysomaticdrivermutationsofsmallcelllungcancer‏ ‎‡A Integrative genome analyses identify key somatic driver mutations of small-cell lung cancer‏ ‎‡9 1‏
919 ‎‡a demographichistoryofoceaniainferredfromgenomewidedata‏ ‎‡A Demographic history of Oceania inferred from genome-wide data‏ ‎‡9 1‏
919 ‎‡a genomewideassociationscanidentifiesthehepaticcholesteroltransporterabcg8asasusceptibilityfactorforhumangallstonedisease‏ ‎‡A A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease‏ ‎‡9 1‏
919 ‎‡a novelmutationintheespingenecausesautosomalrecessivenonsyndromichearinglossbutnoapparentvestibulardysfunctioninamoroccanfamily‏ ‎‡A A novel mutation in the Espin gene causes autosomal recessive nonsyndromic hearing loss but no apparent vestibular dysfunction in a Moroccan family.‏ ‎‡9 1‏
919 ‎‡a systematicapproachtomappingrecessivediseasegenesinindividualsfromoutbredpopulations‏ ‎‡A A systematic approach to mapping recessive disease genes in individuals from outbred populations‏ ‎‡9 1‏
919 ‎‡a systematiccomparisonof2newreleasesofexomesequencingproductstheaimofusedeterminesthechoiceofproduct‏ ‎‡A A systematic comparison of two new releases of exome sequencing products: the aim of use determines the choice of product‏ ‎‡9 1‏
919 ‎‡a evaluationofthegeneticmatchedpairstudydesignusinggenomewidesnpdatafromtheeuropeanpopulation‏ ‎‡A An evaluation of the genetic-matched pair study design using genome-wide SNP data from the European population‏ ‎‡9 1‏
919 ‎‡a applicationofgenomewidesnparraysfordetectionofsimulatedsusceptibilityloci‏ ‎‡A Application of genomewide SNP arrays for detection of simulated susceptibility loci.‏ ‎‡9 1‏
919 ‎‡a assessingtheenrichmentperformanceintargetedresequencingexperiments‏ ‎‡A Assessing the enrichment performance in targeted resequencing experiments‏ ‎‡9 1‏
919 ‎‡a associationofthe867aspvariantofthehumananionexchanger3genewithcommonsubtypesofidiopathicgeneralizedepilepsy‏ ‎‡A Association of the 867Asp variant of the human anion exchanger 3 gene with common subtypes of idiopathic generalized epilepsy‏ ‎‡9 1‏
919 ‎‡a cd74nrg1fusionsinlungadenocarcinoma‏ ‎‡A CD74-NRG1 fusions in lung adenocarcinoma‏ ‎‡9 1‏
919 ‎‡a clinaldistributionofhumangenomicdiversityacrossthenetherlandsdespitearchaeologicalevidenceforgeneticdiscontinuitiesindutchpopulationhistory‏ ‎‡A Clinal distribution of human genomic diversity across the Netherlands despite archaeological evidence for genetic discontinuities in Dutch population history‏ ‎‡9 1‏
919 ‎‡a comprehensivegenomicprofilesofsmallcelllungcancer‏ ‎‡A Comprehensive genomic profiles of small cell lung cancer‏ ‎‡9 1‏
919 ‎‡a coq6mutationsinhumanpatientsproducenephroticsyndromewithsensorineuraldeafness‏ ‎‡A COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness‏ ‎‡9 1‏
919 ‎‡a correlationbetweengeneticandgeographicstructureineurope‏ ‎‡A Correlation between genetic and geographic structure in Europe‏ ‎‡9 1‏
919 ‎‡a diagnosticyieldofvariousgeneticapproachesinpatientswithunexplaineddevelopmentaldelayormentalretardation‏ ‎‡A Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation.‏ ‎‡9 1‏
919 ‎‡a failuretoreplicateanallelicassociationbetweenanexon8polymorphismofthehuman Alpha ‏ ‎‡A Failure to replicate an allelic association between an exon 8 polymorphism of the human Alpha ‏ ‎‡9 1‏
919 ‎‡a failuretoreplicateanallelicassociationbetweenanexon8polymorphismofthehuman Alpha 1acalciumchannelgeneandcommonsyndromesofidiopathicgeneralizedepilepsy‏ ‎‡A Failure to replicate an allelic association between an exon 8 polymorphism of the human Alpha (1A) calcium channel gene and common syndromes of idiopathic generalized epilepsy.‏ ‎‡9 1‏
919 ‎‡a faultyinitiationofproteoglycansynthesiscausescardiacandjointdefects‏ ‎‡A Faulty initiation of proteoglycan synthesis causes cardiac and joint defects‏ ‎‡9 1‏
919 ‎‡a genelocusambiguityinposteriorurethralvalvesprunebellysyndrome‏ ‎‡A Gene locus ambiguity in posterior urethral valves/prune-belly syndrome.‏ ‎‡9 1‏
919 ‎‡a genomewideassociationstudywithdnapoolingidentifiesvariantsatcntnap2associatedwithpseudoexfoliationsyndrome‏ ‎‡A Genome-wide association study with DNA pooling identifies variants at CNTNAP2 associated with pseudoexfoliation syndrome‏ ‎‡9 1‏
919 ‎‡a genomewidelinkageanalysisisapowerfulprenataldiagnostictoolinfamilieswithunknowngeneticdefects‏ ‎‡A Genome-wide linkage analysis is a powerful prenatal diagnostic tool in families with unknown genetic defects‏ ‎‡9 1‏
919 ‎‡a genomewidelinkageanalysisofmalariainfectionintensityandmilddisease‏ ‎‡A Genome-wide linkage analysis of malaria infection intensity and mild disease‏ ‎‡9 1‏
919 ‎‡a genomewidesinglenucleotidepolymorphismarraysdemonstratehighfidelityofmultipledisplacementbasedwholegenomeamplification‏ ‎‡A Genome-wide single-nucleotide polymorphism arrays demonstrate high fidelity of multiple displacement-based whole-genome amplification.‏ ‎‡9 1‏
919 ‎‡a genomewidesnpbasedlinkagescanidentifiesalocuson8q24foranagerelatedhearingimpairmenttrait‏ ‎‡A Genome-wide SNP-based linkage scan identifies a locus on 8q24 for an age-related hearing impairment trait‏ ‎‡9 1‏
919 ‎‡a haplotypesandsnpsin13lipidrelevantgenesexplainmostofthegeneticvarianceinhighdensitylipoproteinandlowdensitylipoproteincholesterol‏ ‎‡A Haplotypes and SNPs in 13 lipid-relevant genes explain most of the genetic variance in high-density lipoprotein and low-density lipoprotein cholesterol‏ ‎‡9 1‏
919 ‎‡a identificationofaputativelysosomalcobalaminexporteralteredinthecblfdefectofvitaminb12metabolism‏ ‎‡A Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism‏ ‎‡9 1‏
919 ‎‡a identificationofnovelfusiongenesinlungcancerusingbreakpointassemblyoftranscriptomesequencingdata‏ ‎‡A Identification of novel fusion genes in lung cancer using breakpoint assembly of transcriptome sequencing data‏ ‎‡9 1‏
919 ‎‡a identificationofnovelmutationsin10linkedretinitispigmentosafamiliesandimplicationsfordiagnostictesting‏ ‎‡A Identification of novel mutations in X-linked retinitis pigmentosa families and implications for diagnostic testing‏ ‎‡9 1‏
919 ‎‡a lossofglis2causesnephronophthisisinhumansandmicebyincreasedapoptosisandfibrosis‏ ‎‡A Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis‏ ‎‡9 1‏
919 ‎‡a lossofnephrocystin3functioncancauseembryoniclethalitymeckelgruberlikesyndromesitusinversusandrenalhepaticpancreaticdysplasia‏ ‎‡A Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia‏ ‎‡9 1‏
919 ‎‡a lrp4mutationsalterwntbetacateninsignalingandcauselimbandkidneymalformationsincenanilenzsyndrome‏ ‎‡A LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome‏ ‎‡9 1‏
919 ‎‡a molecularkaryotypinginpatientswithmentalretardationusing100ksinglenucleotidepolymorphismarrays‏ ‎‡A Molecular karyotyping in patients with mental retardation using 100K single-nucleotide polymorphism arrays‏ ‎‡9 1‏
919 ‎‡a mutationsindifferentcomponentsoffgfsignalinginladdsyndrome‏ ‎‡A Mutations in different components of FGF signaling in LADD syndrome‏ ‎‡9 1‏
919 ‎‡a mutationsinmrapencodinganewinteractingpartneroftheacthreceptorcausefamilialglucocorticoiddeficiencytype2‏ ‎‡A Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2‏ ‎‡9 1‏
919 ‎‡a mutationsinrdh12encodingaphotoreceptorcellretinoldehydrogenasecausechildhoodonsetsevereretinaldystrophy‏ ‎‡A Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy‏ ‎‡9 1‏
919 ‎‡a mutationsinspint2causeasyndromicformofcongenitalsodiumdiarrhea‏ ‎‡A Mutations in SPINT2 cause a syndromic form of congenital sodium diarrhea‏ ‎‡9 1‏
919 ‎‡a mutationsinstra6causeabroadspectrumofmalformationsincludinganophthalmiacongenitalheartdefectsdiaphragmaticherniaalveolarcapillarydysplasialunghypoplasiaandmentalretardation‏ ‎‡A Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation‏ ‎‡9 1‏
919 ‎‡a mutationsinthelipomahmgicfusionpartnerlike5‏ ‎‡A Mutations in the lipoma HMGIC fusion partner-like 5‏ ‎‡9 1‏
919 ‎‡a mutationsinthelipomahmgicfusionpartnerlike5lhfpl5genecauseautosomalrecessivenonsyndromichearingloss‏ ‎‡A Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss‏ ‎‡9 1‏
919 ‎‡a mutationsofthecep290geneencodingacentrosomalproteincausemeckelgrubersyndrome‏ ‎‡A Mutations of theCEP290gene encoding a centrosomal protein cause Meckel-Gruber syndrome‏ ‎‡9 1‏
919 ‎‡a newuniversalprimersfacilitatepyrosequencing‏ ‎‡A New universal primers facilitate Pyrosequencing‏ ‎‡9 1‏
919 ‎‡a positionalcloninguncoversmutationsinplce1responsibleforanephroticsyndromevariantthatmaybereversible‏ ‎‡A Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible‏ ‎‡9 1‏
919 ‎‡a refinementofthemyp3locusonhumanchromosome12inagermanfamilywithmendelianautosomaldominanthighgrademyopiabysnparraymapping‏ ‎‡A Refinement of the MYP3 locus on human chromosome 12 in a German family with Mendelian autosomal dominant high-grade myopia by SNP array mapping.‏ ‎‡9 1‏
919 ‎‡a skeletaldysplasiainaconsanguineousclanfromtheislandofniasindonesiaiscausedbyanovelmutationinb3gat3‏ ‎‡A Skeletal dysplasia in a consanguineous clan from the island of Nias/Indonesia is caused by a novel mutation in B3GAT3‏ ‎‡9 1‏
919 ‎‡a snparraybasedhomozygositymappingrevealsmcph1deletioninfamilywithautosomalrecessivementalretardationandmildmicrocephaly‏ ‎‡A SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly‏ ‎‡9 1‏
919 ‎‡a systematicassociationmappingidentifiesnell1asanovelibddiseasegene‏ ‎‡A Systematic association mapping identifies NELL1 as a novel IBD disease gene‏ ‎‡9 1‏
919 ‎‡a tmem237ismutatedinindividualswithajoubertsyndromerelateddisorderandexpandstheroleofthetmemfamilyattheciliarytransitionzone‏ ‎‡A TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone‏ ‎‡9 1‏
919 ‎‡a trnasplicingendonucleasemutationscausepontocerebellarhypoplasia‏ ‎‡A tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia‏ ‎‡9 1‏
919 ‎‡a truncatingmutationofthedfnb59genecausescochlearhearingimpairmentandcentralvestibulardysfunction‏ ‎‡A Truncating mutation of the DFNB59 gene causes cochlear hearing impairment and central vestibular dysfunction‏ ‎‡9 1‏
946 ‎‡a b‏ ‎‡9 1‏
996 ‎‡2 DNB|140754075‏
996 ‎‡2 LIH|LNB:CJT_g_;=B_e_‏
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996 ‎‡2 DNB|1159361088‏
996 ‎‡2 DNB|1012218147‏
996 ‎‡2 SUDOC|170300838‏
996 ‎‡2 DNB|1172379963‏
996 ‎‡2 PLWABN|9810687133805606‏
996 ‎‡2 DNB|1145674100‏
996 ‎‡2 SUDOC|057702861‏
996 ‎‡2 DNB|136750923‏
996 ‎‡2 DNB|1016014112‏
996 ‎‡2 DNB|1195224532‏
996 ‎‡2 DNB|140310479‏
996 ‎‡2 DNB|137546211‏
996 ‎‡2 DNB|103466879X‏
996 ‎‡2 SZ|124394825‏
996 ‎‡2 DNB|129455504‏
996 ‎‡2 DNB|12341217X‏
996 ‎‡2 NUKAT|n 2021045855‏
996 ‎‡2 ISNI|000000001224867X‏
996 ‎‡2 DNB|138710627‏
996 ‎‡2 JPG|500027639‏
996 ‎‡2 ISNI|0000000452981971‏
996 ‎‡2 NUKAT|n 2013200757‏
996 ‎‡2 DNB|135904463‏
996 ‎‡2 DNB|173620787‏
996 ‎‡2 ISNI|0000000107835850‏
996 ‎‡2 LC|no2019175610‏
996 ‎‡2 DNB|1014429129‏
996 ‎‡2 DNB|1329883195‏
996 ‎‡2 DNB|140416862‏
996 ‎‡2 DNB|1195177313‏
996 ‎‡2 ISNI|0000000072002268‏
996 ‎‡2 DNB|143651277‏
996 ‎‡2 DNB|130094730‏
996 ‎‡2 SUDOC|184020883‏
996 ‎‡2 SUDOC|091608848‏
996 ‎‡2 ISNI|0000000429308404‏
996 ‎‡2 DNB|1056579501‏
996 ‎‡2 DNB|1052872638‏
996 ‎‡2 BNF|14643266‏
996 ‎‡2 LC|nb2021007271‏
996 ‎‡2 BIBSYS|11046244‏
996 ‎‡2 LC|no2014118701‏
996 ‎‡2 ISNI|0000000495504286‏
996 ‎‡2 DNB|132620790‏
996 ‎‡2 DNB|120495341‏
996 ‎‡2 SUDOC|235518549‏
996 ‎‡2 SUDOC|127846409‏
996 ‎‡2 DNB|129923567‏
996 ‎‡2 BIBSYS|14031943‏
996 ‎‡2 NTA|338349456‏
996 ‎‡2 DNB|124889484‏
996 ‎‡2 NTA|338666451‏
996 ‎‡2 SUDOC|203115244‏
996 ‎‡2 ISNI|0000000025242824‏
996 ‎‡2 DNB|132839814‏
996 ‎‡2 DNB|124394825‏
996 ‎‡2 DNB|132809052‏
996 ‎‡2 DNB|115358005‏
996 ‎‡2 DNB|1023372835‏
996 ‎‡2 DNB|1034071076‏
996 ‎‡2 DNB|1095684418‏
996 ‎‡2 DNB|116744793X‏
996 ‎‡2 ISNI|0000000013615945‏
996 ‎‡2 J9U|987007335566905171‏
996 ‎‡2 LC|no2012003643‏
996 ‎‡2 ISNI|000000039347045X‏
996 ‎‡2 LC|n 84136151‏
996 ‎‡2 ISNI|0000000077259302‏
996 ‎‡2 ISNI|0000000019923746‏
996 ‎‡2 NTA|075017024‏
996 ‎‡2 DNB|1212866754‏
996 ‎‡2 DNB|159881196‏
996 ‎‡2 DNB|141188138‏
997 ‎‡a 0 0 lived 0 0‏ ‎‡9 1‏