(Q40162848)

18 September 2017

0 references

The evolving features of Nicolaides-Baraitser syndrome - a clinical report of a 20-year follow-up (English)

1 reference

Nicolaides–Baraitser syndrome

18 September 2017

1 reference

Resham Ejaz

1

1 reference

18 September 2017

Riyana Babul-Hirji

series ordinal

2

1 reference

18 September 2017

David Chitayat

series ordinal

3

1 reference

18 September 2017

language of work or name

1 reference

28 February 2016

1 reference

18 September 2017

Clinical case reports

1 reference

18 September 2017

4

1 reference

18 September 2017

4

1 reference

18 September 2017

351-355

1 reference

Phenotype and genotype in Nicolaides-Baraitser syndrome

18 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4831382

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4831382

Nicolaides-Baraitser syndrome: Delineation of the phenotype

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4831382

ATP-dependent chromatin remodeling in neural development.

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4831382

Nicolaides-Baraitser syndrome: confirmatory report of a syndrome with sparse hair, mental retardation, and short stature and metacarpals

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4831382

An unusual syndrome with mental retardation and sparse hair

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4831382

In-Frame Deletion and Missense Mutations of the C-Terminal Helicase Domain of SMARCA2 in Three Patients with Nicolaides-Baraitser Syndrome.

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4831382

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

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4831382

A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4831382

20 August 2018

Identifiers

DOI

10.1002/CCR3.425

1 reference

18 September 2017

1 reference

18 September 2017

PubMed publication ID

27099726

1 reference