Exome sequencing identifies the cause of a mendelian disorder
about
A mild form of SLC29A3 disorder: a frameshift deletion leads to the paradoxical translation of an otherwise noncoding mRNA splice variantExome sequencing identifies ZNF644 mutations in high myopiaWhole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease geneEarly Diagnosis of Werner's Syndrome Using Exome-Wide Sequencing in a Single, Atypical PatientNext-generation sequencing identifies transportin 3 as the causative gene for LGMD1FWhole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteasesWhole-exome re-sequencing in a family quartet identifies POP1 mutations as the cause of a novel skeletal dysplasiaMutation in the gene encoding ubiquitin ligase LRSAM1 in patients with Charcot-Marie-Tooth diseaseWhole-genome DNA/RNA sequencing identifies truncating mutations in RBCK1 in a novel Mendelian disease with neuromuscular and cardiac involvementA comparative analysis of exome captureHuman genetics and genomics a decade after the release of the draft sequence of the human genomeComputational tools for copy number variation (CNV) detection using next-generation sequencing data: features and perspectivesAncient DNA studies: new perspectives on old samplesHuman genome sequencing in health and diseaseAnalysis of genetic inheritance in a family quartet by whole-genome sequencingImproved exome prioritization of disease genes through cross-species phenotype comparisonA Balanced Look at the Implications of Genomic (and Other "Omics") Testing for Disease Diagnosis and Clinical CarePersonalized medicine: hope or hype?Novel FAM20A mutations in hypoplastic amelogenesis imperfectaWhole-exome sequencing identifies recessive WDR62 mutations in severe brain malformationsFOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathyMutations in multidomain protein MEGF8 identify a Carpenter syndrome subtype associated with defective lateralizationELOVL5 mutations cause spinocerebellar ataxia 38Whole-Exome sequencing identifies FAM20A mutations as a cause of amelogenesis imperfecta and gingival hyperplasia syndromeWhole-exome-sequencing-based discovery of human FADD deficiencyExome sequencing identifies a novel CEACAM16 mutation associated with autosomal dominant nonsyndromic hearing loss DFNA4B in a Chinese familyInherited mutations in the helicase RTEL1 cause telomere dysfunction and Hoyeraal-Hreidarsson syndromeExome sequencing and analysis of induced pluripotent stem cells identify the cilia-related gene male germ cell-associated kinase (MAK) as a cause of retinitis pigmentosaHuman liver cell trafficking mutants: characterization and whole exome sequencingAutosomal recessive cortical myoclonic tremor and epilepsy: association with a mutation in the potassium channel associated gene CNTN2Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skinVACTERL/VATER AssociationFrequent mutation of BAP1 in metastasizing uveal melanomasCleft lip and palate: understanding genetic and environmental influencesEvaluating the role of the FUS/TLS-related gene EWSR1 in amyotrophic lateral sclerosisExome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesisSHROOM3 is a novel candidate for heterotaxy identified by whole exome sequencingExome sequencing identifies MLL2 mutations as a cause of Kabuki syndromeExome sequencing and functional analysis identifies BANF1 mutation as the cause of a hereditary progeroid syndromeDHODH modulates transcriptional elongation in the neural crest and melanoma
P2860
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P2860
Exome sequencing identifies the cause of a mendelian disorder
description
2010 nî lūn-bûn
@nan
2010 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
Exome sequencing identifies the cause of a mendelian disorder
@ast
Exome sequencing identifies the cause of a mendelian disorder
@en
Exome sequencing identifies the cause of a mendelian disorder
@nl
type
label
Exome sequencing identifies the cause of a mendelian disorder
@ast
Exome sequencing identifies the cause of a mendelian disorder
@en
Exome sequencing identifies the cause of a mendelian disorder
@nl
prefLabel
Exome sequencing identifies the cause of a mendelian disorder
@ast
Exome sequencing identifies the cause of a mendelian disorder
@en
Exome sequencing identifies the cause of a mendelian disorder
@nl
P2093
P2860
P3181
P356
P1433
P1476
Exome sequencing identifies the cause of a mendelian disorder
@en
P2093
Abigail W Bigham
Chad D Huff
Deborah A Nickerson
Holly K Tabor
Karin M Dent
Kati J Buckingham
Michael J Bamshad
Paul T Shannon
Sarah B Ng
P2860
P2888
P3181
P356
10.1038/NG.499
P407
P577
2010-01-01T00:00:00Z
P5875
P6179
1021123766