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Clinical Genetics|June 28, 2024
HDR syndrome: Large cohort and systematic reviewNicolas Rive Le Gouard, Valentin Lafond-Rive, Laurence Jonard, et al.Clinical Genetics|December 28, 2020
Smith-Magenis syndrome: Clinical and behavioral characteristics in a large retrospective cohortNicolas Rive Le Gouard, Adeline Jacquinet, Lyse Ruaud, et al.Human Mutation|August 31, 2019
Primary ciliary dyskinesia gene contribution in Tunisia: Identification of a major Mediterranean alleleRahma Mani, Sabrina Belkacem, Zohra Soua, et al.European Journal of Neurology|July 31, 2025
The Two Faces of Pediatric SCA2Nicolas Rive Le Gouard, Maissa G Bah, Giulia Coarelli, et al.Pageof 1