Whole-exome sequencing and neurite outgrowth analysis in autism spectrum disorder.
about
Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders.denovo-db: a compendium of human de novo variants.De novo POGZ mutations in sporadic autism disrupt the DNA-binding activity of POGZ.SRRM4-dependent neuron-specific alternative splicing of protrudin transcripts regulates neurite outgrowth.Incorporating genomic, transcriptomic and clinical data: a prognostic and stem cell-like MYC and PRC imbalance in high-risk neuroblastoma.Genomic Patterns of De Novo Mutation in Simplex Autism.When loss-of-function is loss of function: assessing mutational signatures and impact of loss-of-function genetic variants.Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains.Knockdown of the mitochondria-localized protein p13 protects against experimental parkinsonism.Vitamin D-related genes are subjected to significant de novo mutation burdens in autism spectrum disorder.Expanding the phenotypic spectrum of truncating POGZ mutations: Association with CNS malformations, skeletal abnormalities, and distinctive facial dysmorphism.Genome-wide association study of brain amyloid deposition as measured by Pittsburgh Compound-B (PiB)-PET imaging
P2860
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P2860
Whole-exome sequencing and neurite outgrowth analysis in autism spectrum disorder.
description
2015 nî lūn-bûn
@nan
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
2015年论文
@zh
2015年论文
@zh-cn
name
Whole-exome sequencing and neurite outgrowth analysis in autism spectrum disorder.
@ast
Whole-exome sequencing and neurite outgrowth analysis in autism spectrum disorder.
@en
type
label
Whole-exome sequencing and neurite outgrowth analysis in autism spectrum disorder.
@ast
Whole-exome sequencing and neurite outgrowth analysis in autism spectrum disorder.
@en
prefLabel
Whole-exome sequencing and neurite outgrowth analysis in autism spectrum disorder.
@ast
Whole-exome sequencing and neurite outgrowth analysis in autism spectrum disorder.
@en
P2093
P2860
P50
P356
P1476
Whole-exome sequencing and neurite outgrowth analysis in autism spectrum disorder
@en
P2093
Atsuko Hayata-Takano
Hidenaga Yamamori
Hitoshi Hashimoto
Kazuki Nagayasu
Kensuke Matsumura
Masaki Fukunaga
Masatoshi Takeda
Michiko Fujimoto
Naomichi Matsumoto
Satomi Umeda-Yano
P2860
P2888
P304
P356
10.1038/JHG.2015.141
P50
P577
2015-11-19T00:00:00Z