Clinical and Molecular Aspects of MBD5-Associated Neurodevelopmental Disorder (MAND).

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Clinical and Molecular Aspects of MBD5-Associated Neurodevelopmental Disorder (MAND).

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http://www.wikidata.org/entity/Q38843800

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2016 nî lūn-bûn

@nan

2016年の論文

@ja

2016年論文

@yue

2016年論文

@zh-hant

2016年論文

@zh-hk

2016年論文

@zh-mo

2016年論文

@zh-tw

2016年论文

@wuu

2016年论文

@zh

2016年论文

@zh-cn

name

Clinical and Molecular Aspects of MBD5-Associated Neurodevelopmental Disorder (MAND).

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type

Item

label

Clinical and Molecular Aspects of MBD5-Associated Neurodevelopmental Disorder (MAND).

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prefLabel

Clinical and Molecular Aspects of MBD5-Associated Neurodevelopmental Disorder (MAND).

@en

P1476

Clinical and Molecular Aspects of MBD5-Associated Neurodevelopmental Disorder (MAND).

@en

P2093

Sureni V Mullegama

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P2860

De novo mutations in moderate or severe intellectual disability

The human proteins MBD5 and MBD6 associate with heterochromatin but they do not bind methylated DNA

A human MAP kinase interactome

Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities

FMRP stalls ribosomal translocation on mRNAs linked to synaptic function and autism

The essential role of Mbd5 in the regulation of somatic growth and glucose homeostasis in mice

Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders

The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype.

Molecular mechanisms for CMT1A duplication and HNPP deletion.

Disruption of Mbd5 in mice causes neuronal functional deficits and neurobehavioral abnormalities consistent with 2q23.1 microdeletion syndrome.

P2888

ejhg.2016.35

P304

1235-1243

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P31

scholarly article

review article

P356

10.1038/EJHG.2016.35

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P433

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

P478

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P50

Sarah H. Elsea

P577

2016-05-25T00:00:00Z

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P6179

1034100803

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P698

27222293

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P921

neurodevelopmental disorders

P932

4989212

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