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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.Human Reproduction (Oxford, England)|June 1, 2026
A comprehensive review for defining cut-off values of oocyte, zygote, and embryo maturation arrest (OZEMA) due to maternal-effect genes: towards the establishment of clinical criteriaAnnelore Van Der Kelen, Özlem Okutman, Munevver Serdarogullari, et al.Human Mutation|April 14, 2025
Unexpected Inheritance Patterns in a Large Cohort of Patients with a Suspected CiliopathyAurélie Gouronc, Elodie Javey, Anne-Sophie Leuvrey, et al.Human Reproduction Update|December 26, 2022
A systematic review and evidence assessment of monogenic gene-disease relationships in human female infertility and differences in sex developmentAnnelore Van Der Kelen, Özlem Okutman, Elodie Javey, et al.Pageof 1