Whole-genome DNA/RNA sequencing identifies truncating mutations in RBCK1 in a novel Mendelian disease with neuromuscular and cardiac involvement
about
"Genotype-first" approaches on a curious case of idiopathic progressive cognitive declineMetabolic modeling with Big Data and the gut microbiomeEffective filtering strategies to improve data quality from population-based whole exome sequencing studies.Whole genome sequencing of one complex pedigree illustrates challenges with genomic medicinePhenotypic complementation of genetic immunodeficiency by chronic herpesvirus infection.A new muscle glycogen storage disease associated with glycogenin-1 deficiencyExome sequencing from nanogram amounts of starting DNA: comparing three approaches.Human HOIP and LUBAC deficiency underlies autoinflammation, immunodeficiency, amylopectinosis, and lymphangiectasia.Linear ubiquitination by LUBEL has a role in Drosophila heat stress response.--LUBAC deficiency perturbs TLR3 signaling to cause immunodeficiency and autoinflammation.Genetic profiling for risk reduction in human cardiovascular disease.Roles of linear ubiquitinylation, a crucial regulator of NF-κB and cell death, in the immune system.The multifaceted role of the E3 ubiquitin ligase HOIL-1: beyond linear ubiquitination.The long tail and rare disease research: the impact of next-generation sequencing for rare Mendelian disorders.Linear ubiquitin chains: enzymes, mechanisms and biologyParticipant-driven matchmaking in the genomic era.Differential Involvement of the Npl4 Zinc Finger Domains of SHARPIN and HOIL-1L in Linear Ubiquitin Chain Assembly Complex-Mediated Cell Death ProtectionIntegrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor DONSON as the cause of microcephaly-micromelia syndrome.Mutation in mitochondrial ribosomal protein S7 (MRPS7) causes congenital sensorineural deafness, progressive hepatic and renal failure and lactic acidemia.Improving genetic diagnosis in Mendelian disease with transcriptome sequencing.Mutations in RARS cause a hypomyelination disorder akin to Pelizaeus-Merzbacher disease.Mutations outside the N-terminal part of RBCK1 may cause polyglucosan body myopathy with immunological dysfunction: expanding the genotype-phenotype spectrum.VAReporter: variant reporter for cancer research of massive parallel sequencing.Familial polyglucosan body myopathy with unusual phenotype
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P2860
Whole-genome DNA/RNA sequencing identifies truncating mutations in RBCK1 in a novel Mendelian disease with neuromuscular and cardiac involvement
description
2013 nî lūn-bûn
@nan
2013 թուականին հրատարակուած գիտական յօդուած
@hyw
2013 թվականին հրատարակված գիտական հոդված
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2013年の論文
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2013年論文
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2013年論文
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2013年論文
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2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
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name
Whole-genome DNA/RNA sequencin ...... scular and cardiac involvement
@ast
Whole-genome DNA/RNA sequencin ...... scular and cardiac involvement
@en
Whole-genome DNA/RNA sequencin ...... scular and cardiac involvement
@en-gb
Whole-genome DNA/RNA sequencin ...... scular and cardiac involvement
@nl
type
label
Whole-genome DNA/RNA sequencin ...... scular and cardiac involvement
@ast
Whole-genome DNA/RNA sequencin ...... scular and cardiac involvement
@en
Whole-genome DNA/RNA sequencin ...... scular and cardiac involvement
@en-gb
Whole-genome DNA/RNA sequencin ...... scular and cardiac involvement
@nl
prefLabel
Whole-genome DNA/RNA sequencin ...... scular and cardiac involvement
@ast
Whole-genome DNA/RNA sequencin ...... scular and cardiac involvement
@en
Whole-genome DNA/RNA sequencin ...... scular and cardiac involvement
@en-gb
Whole-genome DNA/RNA sequencin ...... scular and cardiac involvement
@nl
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P2860
P3181
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Whole-genome DNA/RNA sequencin ...... scular and cardiac involvement
@en
P2093
Christopher Cardinale
Cuiping Hou
Elina Toskala
Frederick G Otieno
Gholson J Lyon
Jonathan Bradfield
Kelly Thomas
Ryan Golhar
Yunfei Guo
P2860
P2888
P3181
P356
10.1186/GM471
P407
P577
2013-01-01T00:00:00Z
P5875
P6179
1014510019