Coffin-Siris and Nicolaides-Baraitser syndromes are a common well recognizable cause of intellectual disability.
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Intellectual Disability: When the Hypertrichosis Is a CluePolycomb and trithorax opposition in development and disease.Autism Linked to Increased Oncogene Mutations but Decreased Cancer Rate.Microduplication of the ARID1A gene causes intellectual disability with recognizable syndromic features.The evolving features of Nicolaides-Baraitser syndrome - a clinical report of a 20-year follow-up.Chromatin Remodeling BAF (SWI/SNF) Complexes in Neural Development and Disorders.A SMARCA2 Mutation in the First Case Report of Nicolaides-Baraitser Syndrome in Latin America: Genotype-Phenotype CorrelationHeterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability.Nicolaides-Baraitser syndrome: defining a phenotype.Gonadal mosaicism in ARID1B gene causes intellectual disability and dysmorphic features in three siblings.Mutational Landscapes and Phenotypic Spectrum of SWI/SNF-Related Intellectual Disability Disorders
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P2860
Coffin-Siris and Nicolaides-Baraitser syndromes are a common well recognizable cause of intellectual disability.
description
2014 nî lūn-bûn
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2014年の論文
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2014年学术文章
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2014年学术文章
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2014年学术文章
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2014年学术文章
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2014年学术文章
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name
Coffin-Siris and Nicolaides-Ba ...... se of intellectual disability.
@en
Coffin-Siris and Nicolaides-Ba ...... se of intellectual disability.
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type
label
Coffin-Siris and Nicolaides-Ba ...... se of intellectual disability.
@en
Coffin-Siris and Nicolaides-Ba ...... se of intellectual disability.
@nl
prefLabel
Coffin-Siris and Nicolaides-Ba ...... se of intellectual disability.
@en
Coffin-Siris and Nicolaides-Ba ...... se of intellectual disability.
@nl
P2093
P50
P1476
Coffin-Siris and Nicolaides-Ba ...... se of intellectual disability.
@en
P2093
Angelo Selicorni
Annabella Marozza
Carla Caffarelli
Caterina Lo Rizzo
Chiara Di Marco
Chiara Fallerini
Elena Pretegiani
Francesca Cristofoli
Giulia Carignani
Joris R Vermeesch
P304
P356
10.1016/J.BRAINDEV.2014.08.009
P577
2014-09-22T00:00:00Z