Nicolaides-Baraitser syndrome: defining a phenotype.

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Nicolaides-Baraitser syndrome: defining a phenotype.

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2016 nî lūn-bûn

@nan

2016年の論文

@ja

2016年学术文章

@wuu

2016年学术文章

@zh

2016年学术文章

@zh-cn

2016年学术文章

@zh-hans

2016年学术文章

@zh-my

2016年学术文章

@zh-sg

2016年學術文章

@yue

2016年學術文章

@zh-hant

name

Nicolaides-Baraitser syndrome: defining a phenotype.

@en

Nicolaides-Baraitser syndrome: defining a phenotype.

@nl

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Item

label

Nicolaides-Baraitser syndrome: defining a phenotype.

@en

Nicolaides-Baraitser syndrome: defining a phenotype.

@nl

prefLabel

Nicolaides-Baraitser syndrome: defining a phenotype.

@en

Nicolaides-Baraitser syndrome: defining a phenotype.

@nl

P1476

Nicolaides-Baraitser syndrome: defining a phenotype.

@en

P2093

Elena Pretegiani

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

Maria Teresa Dotti

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

Silvana Penco

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P2860

A two-hit mechanism causes cerebral cavernous malformations: complete inactivation of CCM1, CCM2 or CCM3 in affected endothelial cells

Role of nucleosome remodeling in neurodevelopmental and intellectual disability disorders

Nicolaides-Baraitser syndrome: Delineation of the phenotype

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome.

A novel mouse model of cerebral cavernous malformations based on the two-hit mutation hypothesis recapitulates the human disease.

Clinical course of genetic diseases of the insulin receptor (type A and Rabson-Mendenhall syndromes): a 30-year prospective.

SWI/SNF complex in disorder: SWItching from malignancies to intellectual disability.

Phenotype and genotype in Nicolaides-Baraitser syndrome.

Coffin-Siris and Nicolaides-Baraitser syndromes are a common well recognizable cause of intellectual disability.

An unusual syndrome with mental retradation and sparse hair

P2888

s00415-016-8194-0

P304

1659-1660

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scholarly article

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10.1007/S00415-016-8194-0

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P433

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P478

263

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P50

Francesca Mari

Alessandra Renieri

P577

2016-06-10T00:00:00Z

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P698

27286846

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