Novel CASK mutations in cases with syndromic microcephaly.

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Novel CASK mutations in cases with syndromic microcephaly.

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2018 nî lūn-bûn

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2018年の論文

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2018年学术文章

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2018年学术文章

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2018年学术文章

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2018年学术文章

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2018年学术文章

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2018年學術文章

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2018年學術文章

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2018年學術文章

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Novel CASK mutations in cases with syndromic microcephaly.

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Novel CASK mutations in cases with syndromic microcephaly.

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Novel CASK mutations in cases with syndromic microcephaly.

@en

Novel CASK mutations in cases with syndromic microcephaly.

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Novel CASK mutations in cases with syndromic microcephaly.

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Novel CASK mutations in cases with syndromic microcephaly.

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P1476

Novel CASK mutations in cases with syndromic microcephaly.

@en

P2093

Erica E Davis

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Hilde Van Esch

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Joris R Vermeesch

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Koen Devriendt

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P2860

Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient

Human CASK/LIN-2 binds syndecan-2 and protein 4.1 and localizes to the basolateral membrane of epithelial cells

A novel and conserved protein-protein interaction domain of mammalian Lin-2/CASK binds and recruits SAP97 to the lateral surface of epithelia

Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus.

CASK: a novel dlg/PSD95 homolog with an N-terminal calmodulin-dependent protein kinase domain identified by interaction with neurexins

CASK point mutation regulates protein-protein interactions and NR2b promoter activity

SUMOylation of the MAGUK protein CASK regulates dendritic spinogenesis

X-linked mental retardation gene CASK interacts with Bcl11A/CTIP1 and regulates axon branching and outgrowth

Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination

In vivo modeling of the morbid human genome using Danio rerio

P31

scholarly article

P356

10.1002/HUMU.23536

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P50

Francesca Cristofoli

P577

2018-04-24T00:00:00Z

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P698

29691940

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P921

microcephaly

P932

5995665

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