Whole exome sequencing in patients with white matter abnormalities.

Whole exome sequencing in patients with white matter abnormalities.

Item
http://www.wikidata.org/entity/Q37705319
Clinical and genetic characterization of leukoencephalopathies in adults.Compound heterozygous mutations in glycyl-tRNA synthetase (GARS) cause mitochondrial respiratory chain dysfunction.Functionally pathogenic EARS2 variants in vitro may not manifest a phenotype in vivo.Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination.A novel TUBB4A mutation G96R identified in a patient with hypomyelinating leukodystrophy onset beyond adolescence.Novel biallelic SZT2 mutations in 3 cases of early-onset epileptic encephalopathy.Recessive mutations in NDUFA2 cause mitochondrial leukoencephalopathy.Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9.The First Report of Relative Incidence of Inherited White Matter Disorders in an Asian Country Based on an Iranian Bioregistry System.Pediatric Palliative Care in Infants and Neonates.Phenotype of CNTNAP1: a study of patients demonstrating a specific severe congenital hypomyelinating neuropathy with survival beyond infancy.Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy.Two Korean siblings with recently described ovarioleukodystrophy related to AARS2 mutations.
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Whole exome sequencing in patients with white matter abnormalities.

Item
http://www.wikidata.org/entity/Q37705319
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on 09 May 2016
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
Whole exome sequencing in patients with white matter abnormalities.
@en
Whole exome sequencing in patients with white matter abnormalities.
@nl
type
label
Whole exome sequencing in patients with white matter abnormalities.
@en
Whole exome sequencing in patients with white matter abnormalities.
@nl
prefLabel
Whole exome sequencing in patients with white matter abnormalities.
@en
Whole exome sequencing in patients with white matter abnormalities.
@nl
P1433
P1476
P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P698
P932
P356
P1433
P1476
Whole exome sequencing in patients with white matter abnormalities
@en
P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P698
P932