Nicolaides-baraitser Syndrome
What's New
Last Posted: Mar 06, 2023
- Germline variants in SMARCB1 and other members of the BAF chromatin-remodeling complex across human disease entities: a meta-analysis.
Holsten Till, et al. European journal of human genetics : EJHG 2018 0 (8) 1083-1093 - Nicolaides-Baraitser syndrome in a patient with hypertrophic cardiomyopathy and SMARCA2 gene deletion.
Foley Ross, et al. Cardiology in the young 2021 0 (5) 821-823 - Phenotypic and molecular spectra of patients with switch/sucrose nonfermenting complex-related intellectual disability disorders in Korea.
Lee Yena, et al. BMC medical genomics 2021 0 (1) 254 - [Clinical and genetic analysis of a case with Nicolaides-Baraitser syndrome].
Ma Yanyan, et al. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2020 2 (2) 147-149 - Phenotype and genotype in Nicolaides-Baraitser syndrome.
Sousa Sérgio B, et al. American journal of medical genetics. Part C, Seminars in medical genetics 2014 9 (3) 302-14 - Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients.
Santen Gijs W E, et al. Human mutation 2013 11 (11) 1519-28 - Nicolaides-Baraitser syndrome
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- Page last reviewed:Feb 1, 2024
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