Associated Papers
Blended Phenotypes in Siblings: Dual Diagnoses of Nicolaides-Baraitser and Craniosynostosis Syndromes.
Bizzari S et al.
Molecular Syndromology, 2025
Computational modeling of human genetic variants in mice.
Dong K et al.
Biorxiv : the Preprint Server for Biology, 2025
40060429 (PubMed )
Supplement: media-1.zip › Supp_Data_9_SMARCA2_4_and_Paralogous_Library.xlsx › Sheet1_SMARCA2_4_pathogenecity
SWI/SNF-Related SMARCA2 Gene Mutation Associated with Nicolaides-Baraitser's Syndrome: Follow-up Study.
Akella R
Journal of Pediatric Genetics, 2024
Generation of an induced pluripotent stem cell (iPSC) line SDQLCHi056-A from a patient with Nicolaides-Baraitser syndrome carrying a mutation in SMARCA2 gene.
Yang X et al.
Stem Cell Research, 2023
[Clinical and genetic analysis of a case with Nicolaides-Baraitser syndrome].
Ma Y et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2020
Select a paper to view details