A sibship with duplication of Xq28 inherited from the mother; genomic characterization and clinical outcomes.

about

A sibship with duplication of Xq28 inherited from the mother; genomic characterization and clinical outcomes.

Item

http://www.wikidata.org/entity/Q36311122

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-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

2017年學術文章

@zh-hant

name

A sibship with duplication of ...... ization and clinical outcomes.

@ast

A sibship with duplication of ...... ization and clinical outcomes.

@en

type

Item

label

A sibship with duplication of ...... ization and clinical outcomes.

@ast

A sibship with duplication of ...... ization and clinical outcomes.

@en

prefLabel

A sibship with duplication of ...... ization and clinical outcomes.

@ast

A sibship with duplication of ...... ization and clinical outcomes.

@en

P1476

A sibship with duplication of ...... rization and clinical outcomes

@en

P2093

Ji Eun Park

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

Kyu Young Chae

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

Seung Jun Kim

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

Sung Han Shim

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

P2860

Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2

Essential role for the prolyl isomerase Pin1 in Toll-like receptor signaling and type I interferon-mediated immunity

The impact of MeCP2 loss- or gain-of-function on synaptic plasticity

Fragile X and X-linked intellectual disability: four decades of discovery

Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome

Clinical impacts of genomic copy number gains at Xq28

Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome.

Recent advances in MeCP2 structure and function.

Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males.

The spectrum of phenotypes in females with Rett Syndrome.

P2888

s12881-017-0394-7

P304

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

P31

scholarly article

P356

10.1186/S12881-017-0394-7

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

P433

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

P478

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

P50

Dong Keon Yon

P577

2017-03-17T00:00:00Z

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

P6179

1084250397

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

P698

28302064

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

P932

5356410

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