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Mapping gene associations in human mitochondria using clinical disease phenotypes

Mapping gene associations in human mitochondria using clinical disease phenotypes

http://www.wikidata.org/entity/Q21145361

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Deep sequencing the transcriptome reveals seasonal adaptive mechanisms in a hibernating mammal Proteomic alterations of distinct mitochondrial subpopulations in the type 1 diabetic heart: contribution of protein import dysfunction Prioritization of disease microRNAs through a human phenome-microRNAome network Semi-automated library preparation for high-throughput DNA sequencing platforms.Mining for genotype-phenotype relations in Saccharomyces using partial least squares.Expanding research to provide an evidence base for nutritional interventions for the management of inborn errors of metabolism Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing.Inference of biological pathway from gene expression profiles by time delay boolean networks Abnormalities in glycogen metabolism in a patient with alpers' syndrome presenting with hypoglycemia.Identification of rare DNA variants in mitochondrial disorders with improved array-based sequencing.High-quality DNA sequence capture of 524 disease candidate genes Targeted exome sequencing for mitochondrial disorders reveals high genetic heterogeneity.The mitochondrial proteome and human disease.XPD localizes in mitochondria and protects the mitochondrial genome from oxidative DNA damage.PCR-Free Enrichment of Mitochondrial DNA from Human Blood and Cell Lines for High Quality Next-Generation DNA Sequencing Impact of gut hormone FGF-19 on type-2 diabetes and mitochondrial recovery in a prospective study of obese diabetic women undergoing bariatric surgery Spatial and functional organization of mitochondrial protein network.Rare variant detection using family-based sequencing analysis Challenges of bringing next generation sequencing technologies to clinical molecular diagnostic laboratories MSeqDR: A Centralized Knowledge Repository and Bioinformatics Web Resource to Facilitate Genomic Investigations in Mitochondrial Disease Ribosome profiling reveals features of normal and disease-associated mitochondrial translation.Next generation sequence analysis for mitochondrial disorders The Molecular Genetics of Autosomal Recessive Nonsyndromic Intellectual Disability: a Mutational Continuum and Future Recommendations.Mislocalization of mitochondria and compromised renal function and oxidative stress resistance in Drosophila SesB mutants.Targeted next-generation sequencing expands the spectrum of mitochondrial disorders Off-Target Effects of Drugs that Disrupt Human Mitochondrial DNA Maintenance.Structure of the human aminopeptidase XPNPEP3 and comparison of its in vitro activity with Icp55 orthologs: Insights into diverse cellular processes.

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Mapping gene associations in human mitochondria using clinical disease phenotypes

http://www.wikidata.org/entity/Q21145361

description

2009 nî lūn-bûn

@nan

2009 թուականի Ապրիլին հրատարակուած գիտական յօդուած

@hyw

2009 թվականի ապրիլին հրատարակված գիտական հոդված

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2009年の論文

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2009年論文

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2009年論文

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2009年論文

@zh-hk

2009年論文

@zh-mo

2009年論文

@zh-tw

2009年论文

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name

Mapping gene associations in human mitochondria using clinical disease phenotypes

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Mapping gene associations in human mitochondria using clinical disease phenotypes

@en

Mapping gene associations in human mitochondria using clinical disease phenotypes

@en-gb

Mapping gene associations in human mitochondria using clinical disease phenotypes

@nl

type

label

Mapping gene associations in human mitochondria using clinical disease phenotypes

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Mapping gene associations in human mitochondria using clinical disease phenotypes

@en

Mapping gene associations in human mitochondria using clinical disease phenotypes

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Mapping gene associations in human mitochondria using clinical disease phenotypes

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altLabel

Mapping Gene Associations in Human Mitochondria using Clinical Disease Phenotypes

@en

prefLabel

Mapping gene associations in human mitochondria using clinical disease phenotypes

@ast

Mapping gene associations in human mitochondria using clinical disease phenotypes

@en

Mapping gene associations in human mitochondria using clinical disease phenotypes

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Mapping gene associations in human mitochondria using clinical disease phenotypes

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JOURNAL.PCBI.1000374

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PLOS Computational Biology

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Mapping gene associations in human mitochondria using clinical disease phenotypes

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Curt Scharfe

http://www.w3.org/2001/XMLSchema#string

Edward A Allen

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Gregory M Enns

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Guan-Cheng Li

http://www.w3.org/2001/XMLSchema#string

Henry Horng-Shing Lu

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Jutta K Neuenburg

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Ronald W Davis

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Thomas Klopstock

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Tina M Cowan

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P2860

MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion

A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration

Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion

Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics.

Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders

The human disease network

Integrative analysis of the mitochondrial proteome in yeast

Nuclear genes involved in mitochondria-to-nucleus communication in breast cancer cells

MitoP2: the mitochondrial proteome database--now including mouse data

Functional profiling of the Saccharomyces cerevisiae genome

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e1000374

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10.1371/JOURNAL.PCBI.1000374

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