Deletion Xq27.3q28 in female patient with global developmental delays and skewed X-inactivation. - Wikidata - awgldk - TriplyDB

Deletion Xq27.3q28 in female patient with global developmental delays and skewed X-inactivation.

Deletion Xq27.3q28 in female patient with global developmental delays and skewed X-inactivation.

http://www.wikidata.org/entity/Q34698731

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Microdeletions including FMR1 in three female patients with intellectual disability - further delineation of the phenotype and expression studies.

P2860

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P2860

Deletion Xq27.3q28 in female patient with global developmental delays and skewed X-inactivation.

http://www.wikidata.org/entity/Q34698731

description

2013 nî lūn-bûn

@nan

2013 թուականի Մայիսին հրատարակուած գիտական յօդուած

@hyw

2013 թվականի մայիսին հրատարակված գիտական հոդված

@hy

2013年の論文

@ja

2013年論文

@yue

2013年論文

@zh-hant

2013年論文

@zh-hk

2013年論文

@zh-mo

2013年論文

@zh-tw

2013年论文

@wuu

name

Deletion Xq27.3q28 in female p ...... ays and skewed X-inactivation.

@ast

Deletion Xq27.3q28 in female p ...... ays and skewed X-inactivation.

@en

Deletion Xq27.3q28 in female p ...... ays and skewed X-inactivation.

@nl

type

label

Deletion Xq27.3q28 in female p ...... ays and skewed X-inactivation.

@ast

Deletion Xq27.3q28 in female p ...... ays and skewed X-inactivation.

@en

Deletion Xq27.3q28 in female p ...... ays and skewed X-inactivation.

@nl

prefLabel

Deletion Xq27.3q28 in female p ...... ays and skewed X-inactivation.

@ast

Deletion Xq27.3q28 in female p ...... ays and skewed X-inactivation.

@en

Deletion Xq27.3q28 in female p ...... ays and skewed X-inactivation.

@nl

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P356

1471-2350-14-49

P1433

BMC Medical Genetics

P1476

Deletion Xq27.3q28 in female p ...... ays and skewed X-inactivation.

@en

P2093

Gary S Feldman

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

Julie Simon

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

Lauren S Marshall

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

Mei Peng

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

Michael V Zaragoza

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

Renius Owen

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

Tim Wood

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

P2860

X-inactivation profile reveals extensive variability in X-linked gene expression in females

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

Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly

High prevalence of SLC6A8 deficiency in X-linked mental retardation

X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28

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

Deletion of the Hunter gene and both DXS466 and DXS304 in a patient with mucopolysaccharidosis type II

A recurrent deletion in the ubiquitously expressed NEMO (IKK-gamma) gene accounts for the vast majority of incontinentia pigmenti mutations

Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome

A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast

P2888

1471-2350-14-49

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49

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scholarly article

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10.1186/1471-2350-14-49

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14

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P577

2013-05-01T00:00:00Z

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236601267

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1042610243

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23634718

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3643848

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