SOX5-Null Heterozygous Mutation in a Family with Adult-Onset Hyperkinesia and Behavioral Abnormalities.

about

SOX5-Null Heterozygous Mutation in a Family with Adult-Onset Hyperkinesia and Behavioral Abnormalities.

Item

http://www.wikidata.org/entity/Q46647260

description

2017 nî lūn-bûn

@nan

2017年の論文

@ja

2017年学术文章

@wuu

2017年学术文章

@zh

2017年学术文章

@zh-cn

2017年学术文章

@zh-hans

2017年学术文章

@zh-my

2017年学术文章

@zh-sg

2017年學術文章

@yue

2017年學術文章

@zh-hant

name

SOX5-Null Heterozygous Mutatio ...... and Behavioral Abnormalities.

@en

SOX5-Null Heterozygous Mutatio ...... and Behavioral Abnormalities.

@nl

type

Item

label

SOX5-Null Heterozygous Mutatio ...... and Behavioral Abnormalities.

@en

SOX5-Null Heterozygous Mutatio ...... and Behavioral Abnormalities.

@nl

prefLabel

SOX5-Null Heterozygous Mutatio ...... and Behavioral Abnormalities.

@en

SOX5-Null Heterozygous Mutatio ...... and Behavioral Abnormalities.

@nl

P1476

SOX5-Null Heterozygous Mutatio ...... a and Behavioral Abnormalities

@en

P2093

Katharina Poustka

http://www.w3.org/2001/XMLSchema#string

Riccardo Berutti

http://www.w3.org/2001/XMLSchema#string

Sylvia Boesch

http://www.w3.org/2001/XMLSchema#string

Tim M Strom

http://www.w3.org/2001/XMLSchema#string

Wolfgang Grisold

http://www.w3.org/2001/XMLSchema#string

P2860

Analysis of protein-coding genetic variation in 60,706 humans

Identification and characterization of the human long form of Sox5 (L-SOX5) gene

SOX5 controls the sequential generation of distinct corticofugal neuron subtypes

SOX5 is a candidate gene for chronic obstructive pulmonary disease susceptibility and is necessary for lung development.

SOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletions.

Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features.

SOX5 postmitotically regulates migration, postmigratory differentiation, and projections of subplate and deep-layer neocortical neurons.

Functional (psychogenic) movement disorders: merging mind and brain.

Sox proteins: regulators of cell fate specification and differentiation.

Update on the Genetics of Dystonia.

P304

2721615

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

case report

P356

10.1155/2017/2721615

http://www.w3.org/2001/XMLSchema#string

P478

2017

http://www.w3.org/2001/XMLSchema#string

P50

Werner Poewe

Michael Zech

Juliane Winkelmann

P577

2017-10-29T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P698

29214085

http://www.w3.org/2001/XMLSchema#string

P932

5682053

http://www.w3.org/2001/XMLSchema#string