Mutations in mammalian tolloid-like 1 gene detected in adult patients with ASD.
about
A de novo mutation in NKX2.5 associated with atrial septal defects, ventricular noncompaction, syncope and sudden death.Terminal chromosome 4q deletion syndrome in an infant with hearing impairment and moderate syndromic features: review of literature.Metalloproteinases in Drosophila to humans that are central players in developmental processes.Gene network and familial analyses uncover a gene network involving Tbx5/Osr1/Pcsk6 interaction in the second heart field for atrial septation.Sexual dimorphism of the suprascapular notch - morphometric study.A gain-of-function ACTC1 3'UTR mutation that introduces a miR-139-5p target site may be associated with a dominant familial atrial septal defect.Utilization of Whole Exome Sequencing to Identify Causative Mutations in Familial Congenital Heart Disease.Knockdown of alpha myosin heavy chain disrupts the cytoskeleton and leads to multiple defects during chick cardiogenesis.A prospective study of the clinical utility of prenatal chromosomal microarray analysis in fetuses with ultrasound abnormalities and an exploration of a framework for reporting unclassified variants and risk factors.Association of Cx43 rs2071166 polymorphism with an increased risk for atrial septal defect.
P2860
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P2860
Mutations in mammalian tolloid-like 1 gene detected in adult patients with ASD.
description
2008 nî lūn-bûn
@nan
2008 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2008 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
name
Mutations in mammalian tolloid-like 1 gene detected in adult patients with ASD.
@ast
Mutations in mammalian tolloid-like 1 gene detected in adult patients with ASD.
@en
Mutations in mammalian tolloid-like 1 gene detected in adult patients with ASD.
@nl
type
label
Mutations in mammalian tolloid-like 1 gene detected in adult patients with ASD.
@ast
Mutations in mammalian tolloid-like 1 gene detected in adult patients with ASD.
@en
Mutations in mammalian tolloid-like 1 gene detected in adult patients with ASD.
@nl
prefLabel
Mutations in mammalian tolloid-like 1 gene detected in adult patients with ASD.
@ast
Mutations in mammalian tolloid-like 1 gene detected in adult patients with ASD.
@en
Mutations in mammalian tolloid-like 1 gene detected in adult patients with ASD.
@nl
P2093
P2860
P356
P1476
Mutations in mammalian tolloid-like 1 gene detected in adult patients with ASD.
@en
P2093
Aleksander L Sieroń
Aleksandra Auguściak-Duma
Anna Szydło
Ewa Gutmajster
Hanna Czekaj
Joanna Witecka
Maciej Tarnowski
Małgorzata Lisik
Paweł Stańczak
Tomasz Czekaj
P2860
P2888
P304
P356
10.1038/EJHG.2008.175
P577
2008-10-01T00:00:00Z
P5875
P6179
1022941191