Leigh map: A novel computational diagnostic resource for mitochondrial disease. - Test2 - elhamkhani - TriplyDB

Leigh map: A novel computational diagnostic resource for mitochondrial disease.

Leigh map: A novel computational diagnostic resource for mitochondrial disease.

http://www.wikidata.org/entity/Q37696444

about

AAV9-based gene therapy partially ameliorates the clinical phenotype of a mouse model of Leigh syndrome.Thiamine deficiency in childhood with attention to genetic causes: Survival and outcome predictors.

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Leigh map: A novel computational diagnostic resource for mitochondrial disease.

http://www.wikidata.org/entity/Q37696444

description

article científic

@ca

article scientifique

@fr

articolo scientifico

@it

artigo científico

@pt

bilimsel makale

@tr

scientific article published on 15 December 2016

@en

vedecký článok

@sk

vetenskaplig artikel

@sv

videnskabelig artikel

@da

vědecký článek

@cs

name

Leigh map: A novel computational diagnostic resource for mitochondrial disease.

@en

Leigh map: A novel computational diagnostic resource for mitochondrial disease.

@nl

type

label

Leigh map: A novel computational diagnostic resource for mitochondrial disease.

@en

Leigh map: A novel computational diagnostic resource for mitochondrial disease.

@nl

prefLabel

Leigh map: A novel computational diagnostic resource for mitochondrial disease.

@en

Leigh map: A novel computational diagnostic resource for mitochondrial disease.

@nl

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Annals of Neurology

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Leigh map: A novel computational diagnostic resource for mitochondrial disease.

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Alberto Noronha

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Joyeeta Rahman

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Shamima Rahman

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Subacute necrotizing encephalomyelopathy in an infant

Clinical diagnostics in human genetics with semantic similarity searches in ontologies

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

Mitochondrial Protein Interaction Mapping Identifies Regulators of Respiratory Chain Function

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A community-driven global reconstruction of human metabolism.

RANBP2 mutation and acute necrotizing encephalopathy: 2 cases and a literature review of the expanding clinico-radiological phenotype.

A multicenter study on Leigh syndrome: disease course and predictors of survival.

Genenames.org: the HGNC resources in 2015

HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase.

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9-16

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scholarly article

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10.1002/ANA.24835

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1

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81

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2016-12-15T00:00:00Z

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