Associated Papers
Ten-year follow-up of Nicolaides-Baraitser syndrome with a de novo mutation and analysis of 58 gene loci of SMARCA2-associated NCBRS.
Zhang X et al.
Molecular Genetics & Genomic Medicine, 2022
Parallel Tests of Whole Exome Sequencing and Copy Number Variant Sequencing Increase the Diagnosis Yields of Rare Pediatric Disorders.
Hu X et al.
Frontiers in Genetics, 2020
[Analysis of SMARCA2 gene mutation in a child with Nicolaides-Baraitser syndrome].
Hu X et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2019
New SMARCA2 mutation in a patient with Nicolaides-Baraitser syndrome and myoclonic astatic epilepsy.
Tang S et al.
American Journal of Medical Genetics. Part A, 2017
The evolving features of Nicolaides-Baraitser syndrome - a clinical report of a 20-year follow-up.
Ejaz R et al.
Clinical Case Reports, 2016
Coffin-Siris and Nicolaides-Baraitser syndromes are a common well recognizable cause of intellectual disability.
Mari F et al.
Brain & Development, 2015
Phenotype and genotype in Nicolaides-Baraitser syndrome.
Sousa SB et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2014
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