Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome
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Exome sequencing identifies ZNF644 mutations in high myopiaEarly Diagnosis of Werner's Syndrome Using Exome-Wide Sequencing in a Single, Atypical PatientWhole-genome DNA/RNA sequencing identifies truncating mutations in RBCK1 in a novel Mendelian disease with neuromuscular and cardiac involvementExome sequencing identifies a novel missense variant in RRM2B associated with autosomal recessive progressive external ophthalmoplegiaA comparative analysis of exome captureHuman genetics and genomics a decade after the release of the draft sequence of the human genomeExome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndromeHuman genome sequencing in health and diseaseImproved exome prioritization of disease genes through cross-species phenotype comparisonPersonalized medicine: hope or hype?Whole-Exome sequencing identifies FAM20A mutations as a cause of amelogenesis imperfecta and gingival hyperplasia syndromeCleft lip and palate: understanding genetic and environmental influencesSpectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndromeExome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesisDiscovery and prioritization of somatic mutations in diffuse large B-cell lymphoma (DLBCL) by whole-exome sequencingSHROOM3 is a novel candidate for heterotaxy identified by whole exome sequencingGenes and chronic obstructive pulmonary diseaseRecent Advances in Autism Spectrum Disorders: Applications of Whole Exome Sequencing TechnologyThe Increasing Importance of Gene-Based AnalysesKabuki syndrome: clinical and molecular characteristicsMutation of chromatin modifiers; an emerging hallmark of germinal center B-cell lymphomasRare-variant association analysis: study designs and statistical testsCongenital heart disease: emerging themes linking genetics and developmentInvestigating the transcriptional control of cardiovascular developmentDisease gene identification strategies for exome sequencingMendelian disorders of the epigenetic machinery: tipping the balance of chromatin statesDECIPHER: web-based, community resource for clinical interpretation of rare variants in developmental disordersOf mice and men: molecular genetics of congenital heart diseaseTranscriptional co-repressors and memory storageNeurogenomics of speech and language disorders: the road aheadInvestigative pathology: leading the post-genomic revolutionHijacked in cancer: the KMT2 (MLL) family of methyltransferasesUsing familial information for variant filtering in high-throughput sequencing studiesHistone methylations in heart development, congenital and adult heart diseasesThe Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and OpportunitiesDiverse functions of PHD fingers of the MLL/KMT2 subfamilyMolecular mechanisms of disease-causing missense mutationsComputational and statistical approaches to analyzing variants identified by exome sequencingAmish revisited: next-generation sequencing studies of psychiatric disorders among the Plain peopleBovine exome sequence analysis and targeted SNP genotyping of recessive fertility defects BH1, HH2, and HH3 reveal a putative causative mutation in SMC2 for HH3
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P2860
Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome
description
2010 nî lūn-bûn
@nan
2010 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2010年の論文
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2010年学术文章
@wuu
2010年学术文章
@zh-cn
2010年学术文章
@zh-hans
2010年学术文章
@zh-my
2010年学术文章
@zh-sg
2010年學術文章
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name
Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome
@ast
Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome
@en
Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome
@nl
type
label
Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome
@ast
Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome
@en
Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome
@nl
prefLabel
Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome
@ast
Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome
@en
Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome
@nl
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Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome
@en
P2093
Abigail W Bigham
Anita E Beck
Deborah A Nickerson
Gregory M Cooper
Heather C Mefford
Heidi I Gildersleeve
Holly K Tabor
Joshua D Smith
Kati J Buckingham
P2860
P2888
P3181
P356
10.1038/NG.646
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P577
2010-09-01T00:00:00Z
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P6179
1040149061