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Clinical Genetics|June 21, 2025
PIK3C2A-Related Clinical Phenotype and Cellular Charaterization Linked to Functional SHH Primary Cilia DefectAdella Karam, Clarisse Delvallée, Bénédicte Gérard, et al.International Journal of Molecular Sciences|May 27, 2023
WGS Revealed Novel BBS5 Pathogenic Variants, Missed by WES, Causing Ciliary Structure and Function DefectsAdella Karam, Clarisse Delvallée, Alejandro Estrada-Cuzcano, et al.Pageof 1