Genome-wide copy number analysis uncovers a new HSCR gene: NRG3
about
Enteric nervous system development: migration, differentiation, and diseaseA collagen VI-dependent pathogenic mechanism for Hirschsprung's disease.Defining the transcriptomic landscape of the developing enteric nervous system and its cellular environmentA genomic copy number variant analysis implicates the MBD5 and HNRNPU genes in Chinese children with infantile spasms and expands the clinical spectrum of 2q23.1 deletionExome sequencing identified NRG3 as a novel susceptible gene of Hirschsprung's disease in a Chinese population.A genome-wide association study identifies potential susceptibility loci for Hirschsprung diseaseCommon genetic variations in Patched1 (PTCH1) gene and risk of hirschsprung disease in the Han Chinese population.Genotyping analysis of 3 RET polymorphisms demonstrates low somatic mutation rate in Chinese Hirschsprung disease patientsExome sequencing reveals a high genetic heterogeneity on familial Hirschsprung disease.Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.Effects of RET, NRG1 and NRG3 Polymorphisms in a Chinese Population with Hirschsprung Disease.Hedgehog and Notch signaling in enteric nervous system development.Trans-ethnic meta-analysis of genome-wide association studies for Hirschsprung disease.Genetic Background of Hirschsprung Disease: A Bridge Between Basic Science and Clinical Application.Neuregulin 3 and its roles in schizophrenia risk and presentation.Exome-Wide Association Study Identified New Risk Loci for Hirschsprung's Disease.Self-domestication in Homo sapiens: Insights from comparative genomics.GStream: improving SNP and CNV coverage on genome-wide association studies.Uncovering the genetic lesions underlying the most severe form of Hirschsprung disease by whole-genome sequencing.Association of VAMP5 and MCC genetic polymorphisms with increased risk of Hirschsprung disease susceptibility in Southern Chinese children.Common genetic variants in GAL, GAP43 and NRSN1 and interaction networks confer susceptibility to Hirschsprung disease.Significance of neurexin and neuroligin polymorphisms in regulating risk of Hirschsprung's disease.
P2860
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P2860
Genome-wide copy number analysis uncovers a new HSCR gene: NRG3
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2012 nî lūn-bûn
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2012 թուականին հրատարակուած գիտական յօդուած
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2012 թվականին հրատարակված գիտական հոդված
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2012年の論文
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2012年論文
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2012年論文
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2012年論文
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2012年論文
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2012年論文
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2012年论文
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Genome-wide copy number analysis uncovers a new HSCR gene: NRG3
@ast
Genome-wide copy number analysis uncovers a new HSCR gene: NRG3
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Genome-wide copy number analysis uncovers a new HSCR gene: NRG3
@en-gb
Genome-wide copy number analysis uncovers a new HSCR gene: NRG3
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Genome-wide copy number analysis uncovers a new HSCR gene: NRG3
@ast
Genome-wide copy number analysis uncovers a new HSCR gene: NRG3
@en
Genome-wide copy number analysis uncovers a new HSCR gene: NRG3
@en-gb
Genome-wide copy number analysis uncovers a new HSCR gene: NRG3
@nl
prefLabel
Genome-wide copy number analysis uncovers a new HSCR gene: NRG3
@ast
Genome-wide copy number analysis uncovers a new HSCR gene: NRG3
@en
Genome-wide copy number analysis uncovers a new HSCR gene: NRG3
@en-gb
Genome-wide copy number analysis uncovers a new HSCR gene: NRG3
@nl
P2093
P2860
P50
P1433
P1476
Genome-wide copy number analysis uncovers a new HSCR gene: NRG3
@en
P2093
Benjamin Hon-Kei Yip
Christian R Marshall
Danny Chan
Elly Sau-Wai Ngan
Emily Hoi-Man Wong
Kenneth Cheung
Kenneth Kak-Yuen Wong
Man-Ting So
P2860
P304
P356
10.1371/JOURNAL.PGEN.1002687
P407
P577
2012-01-01T00:00:00Z