SPTAN1 encephalopathy: distinct phenotypes and genotypes.
about
The role of prostate tumor overexpressed 1 in cancer progression9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotypingHuman mutations in integrator complex subunits link transcriptome integrity to brain development.Epileptic Encephalopathy in Childhood: A Stepwise Approach for Identification of Underlying Genetic Causes.Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.A customized high-resolution array-comparative genomic hybridization to explore copy number variations in Parkinson's diseaseDelineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy.Regulation and dysregulation of axon infrastructure by myelinating glia.αII Spectrin Forms a Periodic Cytoskeleton at the Axon Initial Segment and Is Required for Nervous System Function.Critical roles of αII spectrin in brain development and epileptic encephalopathy.Spectrin and its interacting partners in nuclear structure and function.
P2860
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P2860
SPTAN1 encephalopathy: distinct phenotypes and genotypes.
description
2015 nî lūn-bûn
@nan
2015 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2015 թվականի հունվարին 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
SPTAN1 encephalopathy: distinct phenotypes and genotypes.
@ast
SPTAN1 encephalopathy: distinct phenotypes and genotypes.
@en
type
label
SPTAN1 encephalopathy: distinct phenotypes and genotypes.
@ast
SPTAN1 encephalopathy: distinct phenotypes and genotypes.
@en
prefLabel
SPTAN1 encephalopathy: distinct phenotypes and genotypes.
@ast
SPTAN1 encephalopathy: distinct phenotypes and genotypes.
@en
P2093
P2860
P356
P1476
SPTAN1 encephalopathy: distinct phenotypes and genotypes.
@en
P2093
Ch'ng Gaik-Siew
Jun Tohyama
Mitsuko Nakashima
Naomichi Matsumoto
Rie Miyata
Shin Nabatame
Zvonka Rener-Primec
P2860
P2888
P304
P356
10.1038/JHG.2015.5
P577
2015-01-29T00:00:00Z