about
Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndromeCoffin-Siris syndrome: review and presentation of new cases from a questionnaire study.Meier-Gorlin syndrome: report of eight additional cases and review.De novo mutations in ARID1B associated with both syndromic and non-syndromic short stature.Molecular signature of pancreatic adenocarcinoma: an insight from genotype to phenotype and challenges for targeted therapy.Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A.Coffin-Siris syndrome and related disorders involving components of the BAF (mSWI/SNF) complex: historical review and recent advances using next generation sequencing.Coffin-Siris syndrome with the rarest constellation of congenital cardiac defects: A case report with review of literature.Successful difficult airway management of a child with Coffin-siris syndromeChromatin Remodeling BAF (SWI/SNF) Complexes in Neural Development and Disorders.Candidate region for Coffin-Siris syndrome at 7q32-->34.Cognitive and behavioral functioning in Coffin-Siris syndrome and epilepsy: a case presentation.Apparently balanced t(1;7)(q21.3;q34) in an infant with Coffin-Siris syndrome.Variant of Coffin-Siris syndrome or previously undescribed syndrome?Report of a patient with a constitutional missense mutation in SMARCB1, Coffin-Siris phenotype, and schwannomatosis.Clinical correlations of mutations affecting six components of the SWI/SNF complex: detailed description of 21 patients and a review of the literature
P2860
Q28262120-953F77C4-CA21-4F2E-9F32-7E060E094E82Q33932680-A828BD1D-D69D-40C5-B3E4-61D42AF72B69Q34321932-4C793DA0-B28F-4FD6-9F0C-0B6ABE4D442FQ35777495-9427CBB3-DB95-4984-A23B-42365357BF2EQ37176648-4A175176-CF0D-4CD2-AFDB-E4BBD028143EQ38244379-B0F4386B-1DA0-4DAC-BC39-E6BEE7F03242Q38244479-595A9844-3D40-4433-945C-911E15A81997Q38258335-16829082-2CF7-4A42-9F7A-96E144EFA409Q41196913-3C3B1087-FE40-4B9A-882E-0C60DBCDD72DQ41220897-6D293E89-8C53-4E1B-83EB-1366F2D2FF0CQ41752442-8765C0E4-011E-49B8-8E32-05D22A25129EQ51875066-2BC962A7-D633-4FD0-AF7E-9C6990FF45CCQ51999100-5630C21B-39EA-4337-AB72-0EA711C9F85EQ52007495-15F7BE7C-3E57-4B18-AEB6-7336F4390016Q53347056-8919400D-DD05-4A5F-B5D2-4BBD4DFFB668Q57756447-6E0BA9E9-4F5D-47AA-B0B7-1E0420706A64
P2860
description
1991 nî lūn-bûn
@nan
1991 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
1991 թվականի մայիսին հրատարակված գիտական հոդված
@hy
1991年の論文
@ja
1991年論文
@yue
1991年論文
@zh-hant
1991年論文
@zh-hk
1991年論文
@zh-mo
1991年論文
@zh-tw
1991年论文
@wuu
name
Coffin-Siris syndrome
@nl
Coffin-Siris syndrome.
@ast
Coffin-Siris syndrome.
@en
Coffin-Siris syndrome.
@en-gb
type
label
Coffin-Siris syndrome
@nl
Coffin-Siris syndrome.
@ast
Coffin-Siris syndrome.
@en
Coffin-Siris syndrome.
@en-gb
prefLabel
Coffin-Siris syndrome
@nl
Coffin-Siris syndrome.
@ast
Coffin-Siris syndrome.
@en
Coffin-Siris syndrome.
@en-gb
P2860
P356
P1476
Coffin-Siris syndrome.
@en
P2093
P2860
P304
P356
10.1136/JMG.28.5.338
P407
P50
P577
1991-05-01T00:00:00Z