DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome.

DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome.

Item
http://www.wikidata.org/entity/Q38244453
TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features.Skywalker-TBC1D24 has a lipid-binding pocket mutated in epilepsy and required for synaptic functionDeletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin-Siris syndromeCoffin-Siris syndrome and related disorders involving components of the BAF (mSWI/SNF) complex: historical review and recent advances using next generation sequencing.Unresolved questions regarding human hereditary deafness.TLDc proteins: new players in the oxidative stress response and neurological disease.Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population.Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome.The membrane strikes back: phosphoinositide binding regulates Skywalker function.Mutational Landscapes and Phenotypic Spectrum of SWI/SNF-Related Intellectual Disability Disorders
P2860

DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome.

Item
http://www.wikidata.org/entity/Q38244453
description
2014 nî lūn-bûn
@nan
2014年の論文
@ja
2014年学术文章
@wuu
2014年学术文章
@zh-cn
2014年学术文章
@zh-hans
2014年学术文章
@zh-my
2014年学术文章
@zh-sg
2014年學術文章
@yue
2014年學術文章
@zh
2014年學術文章
@zh-hant
name
DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome.
@en
type
label
DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome.
@en
prefLabel
DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome.
@en
P1433
P1476
P2093
P2860
P304
P31
P356
P433
P478
P577
P698
P356
P1433
P1476
DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome.
@en
P2093
P2860
P304
P31
P356
P433
P478
P577
P698