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Clinical Genetics|July 17, 2025
Humeroradial Synostosis: An Updated Classification and Differential Diagnosis Based on Genetic AetiologyFiona Leduc, Clémence Vanlerberghe, Fabienne Escande, et al.International Journal of Molecular Sciences|February 24, 2024
Novel Genetic and Phenotypic Expansion in Ameliorated PUF60-Related DisordersEmily Baum, Wenming Huang, Catherine Vincent-Delorme, et al.American Journal of Medical Genetics. Part A|May 4, 2019
WNT10B variants in split hand/foot malformation: Report of three novel families and review of the literaturePerrine Brunelle, Anne-Sophie Jourdain, Fabienne Escande, et al.American Journal of Medical Genetics. Part A|July 13, 2024
Expanded phenotypic spectrum of UDP-glucose-6-dehydrogenase recessive neurodevelopmental disorder: Two novel descriptions with or without epileptic encephalopathyPauline Plante-Bordeneuve, Simon Boussion, Mélanie Rama, et al.Human Genomics|March 14, 2026
Resolving non‑coding splice‑altering variants using an integrative genomic and transcriptomic workflow: application to FOXP1Pauline Planté-Bordeneuve, Anne-Sophie Jourdain, Caroline Thuillier, et al.Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|March 18, 2020
Homozygous Loss-of-Function Mutations in CCDC134 Are Responsible for a Severe Form of Osteogenesis ImperfectaJohanne Dubail, Perrine Brunelle, Geneviève Baujat, et al.European Journal of Human Genetics : EJHG|June 26, 2024
Clinical spectrum of rare bone fragility disorders and response to bisphosphonate treatment: a retrospective studyMaëlle Charpié, Perrine Brunelle, Geneviève Baujat, et al.Clinical Genetics|December 3, 2025
The Phenotypic Spectrum of Miller Syndrome: Insight From a French CohortMarion Aubert Mucca, Perrine Brunelle, Martine Doco Fenzy, et al.European Journal of Human Genetics : EJHG|May 10, 2025
Townes-Brocks syndrome: genotype-phenotype correlations of SALL1 variants in our series and the literatureFiona Leduc, Perrine Brunelle, Fabienne Escande, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 13, 2024
Functional characterization vs in silico prediction for TBX5 missense and splice variants in Holt-Oram syndromeClémence Vanlerberghe, Anne Sophie Jourdain, Frédéric Frenois, et al.Pageof 3