Disruption of CLPB is associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria.
about
The larvicide pyriproxyfen blamed during the Zika virus outbreak does not cause microcephaly in zebrafish embryosA scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patients.PARL mediates Smac proteolytic maturation in mitochondria to promote apoptosis.Prenatal homozygosity mapping detects a novel mutation in CHST3 in a fetus with skeletal dysplasia and joint dislocations.Asparagine Synthetase deficiency-report of a novel mutation and review of literature.PARL partitions the lipid transfer protein STARD7 between the cytosol and mitochondria.
P2860
Disruption of CLPB is associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria.
description
2015 nî lūn-bûn
@nan
2015 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2015 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
name
Disruption of CLPB is associat ...... d 3-methylglutaconic aciduria.
@ast
Disruption of CLPB is associat ...... d 3-methylglutaconic aciduria.
@en
Disruption of CLPB is associat ...... d 3-methylglutaconic aciduria.
@nl
type
label
Disruption of CLPB is associat ...... d 3-methylglutaconic aciduria.
@ast
Disruption of CLPB is associat ...... d 3-methylglutaconic aciduria.
@en
Disruption of CLPB is associat ...... d 3-methylglutaconic aciduria.
@nl
prefLabel
Disruption of CLPB is associat ...... d 3-methylglutaconic aciduria.
@ast
Disruption of CLPB is associat ...... d 3-methylglutaconic aciduria.
@en
Disruption of CLPB is associat ...... d 3-methylglutaconic aciduria.
@nl
P2093
P2860
P50
P1476
Disruption of CLPB is associat ...... d 3-methylglutaconic aciduria.
@en
P2093
Catherine Fallet-Bianco
Christina Nassif
Christine Vande Velde
Damian Labuda
Edna Brustein
Fadi F Hamdan
Jacques L Michaud
Lysanne Patry
Mark E Samuels
Meijiang Liao
P2860
P304
P356
10.1136/JMEDGENET-2014-102952
P407
P577
2015-02-03T00:00:00Z