Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency.
about
Human genome sequencing in health and diseaseCharacterization of mitochondrial FOXRED1 in the assembly of respiratory chain complex IMutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathyMitochondrial disease in childhood: nuclear encodedMitochondrial geneticsDisease gene identification strategies for exome sequencingDynamics of Human Mitochondrial Complex I Assembly: Implications for Neurodegenerative DiseasesLong-chain acyl-CoA dehydrogenase deficiency as a cause of pulmonary surfactant dysfunctionGenetic mapping and exome sequencing identify variants associated with five novel diseasesDeep Sequencing Reveals Novel Genetic Variants in Children with Acute Liver Failure and Tissue Evidence of Impaired Energy MetabolismA mutation in the TMEM65 gene results in mitochondrial myopathy with severe neurological manifestations.Lethal Neonatal Progression of Fetal Cardiomegaly Associated to ACAD9 Deficiency.Systems genetics of metabolism: the use of the BXD murine reference panel for multiscalar integration of traitsSteps to ensure accuracy in genotype and SNP calling from Illumina sequencing data.A guide to diagnosis and treatment of Leigh syndrome.Likelihood-based complex trait association testing for arbitrary depth sequencing data.Expanded genetic codes in next generation sequencing enable decontamination and mitochondrial enrichment.Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders.Treatment of mitochondrial disorders.Identification of gene mutations in autosomal dominant polycystic kidney disease through targeted resequencing.Complex changes in the liver mitochondrial proteome of short chain acyl-CoA dehydrogenase deficient mice.Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing.An exome sequencing strategy to diagnose lethal autosomal recessive disorders.Metabolic determinants of cancer cell sensitivity to glucose limitation and biguanides.New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre.Deep sequencing of patient genomes for disease diagnosis: when will it become routine?BioBin: a bioinformatics tool for automating the binning of rare variants using publicly available biological knowledge.Personal genomes, quantitative dynamic omics and personalized medicineAn update on complex I assembly: the assembly of players.Resolving the variable genome and epigenome in human disease.Maintaining ancient organelles: mitochondrial biogenesis and maturation.Exome capture sequencing identifies a novel mutation in BBS4Comprehensive comparison of three commercial human whole-exome capture platforms.DNA sequencing: clinical applications of new DNA sequencing technologies.Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency.Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases.L-Galactono-1,4-lactone dehydrogenase is an assembly factor of the membrane arm of mitochondrial complex I in ArabidopsisMitochondrial Involvement in Vertebrate Speciation? The Case of Mito-nuclear Genetic Divergence in Chameleons.High-throughput sequencing and rare genetic diseases.Exome sequencing and unrelated findings in the context of complex disease research: ethical and clinical implications.
P2860
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P2860
Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency.
description
2010 nî lūn-bûn
@nan
2010 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
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
@yue
name
Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency.
@ast
Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency.
@en
Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency.
@nl
type
label
Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency.
@ast
Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency.
@en
Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency.
@nl
prefLabel
Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency.
@ast
Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency.
@en
Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency.
@nl
P2093
P50
P356
P1433
P1476
Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency.
@en
P2093
Arcangela Iuso
Birgit Haberberger
Boris Rolinski
Detlef Boehm
Jonathan Hoser
Katharina Danhauser
Saskia Biskup
Tobias B Haack
Valentina Strecker
P2888
P304
P356
10.1038/NG.706
P407
P50
P577
2010-11-07T00:00:00Z