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Cold Spring Harbor Perspectives in Medicine|January 3, 2023
Retinal Degeneration Animal Models in Bardet-Biedl Syndrome and Related CiliopathiesClarisse Delvallée, Hélène DollfusFrontiers in Genetics|February 15, 2019
Identification and Characterization of Known Biallelic Mutations in the IFT27 (BBS19) Gene in a Novel Family With Bardet-Biedl SyndromeElise Schaefer, Clarisse Delvallée, Laura Mary, et al.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 Mutation|September 25, 2019
Novel IQCE variations confirm its role in postaxial polydactyly and cause ciliary defect phenotype in zebrafishAlejandro Estrada-Cuzcano, Christelle Etard, Clarisse Delvallée, et al.Journal of Neurology|January 24, 2024
Does Spinocerebellar ataxia 27B mimic cerebellar multiple system atrophy?Thomas Wirth, Céline Bonnet, Clarisse Delvallée, et al.Movement Disorders : Official Journal of the Movement Disorder Society|March 4, 2024
Rare Missense Variants in KCNJ10 Are Associated with Paroxysmal Kinesigenic DyskinesiaThomas Wirth, Emmanuel Roze, Clarisse Delvallée, et al.Movement Disorders : Official Journal of the Movement Disorder Society|July 20, 2023
Natural History and Phenotypic Spectrum of GAA-FGF14 Sporadic Late-Onset Cerebellar Ataxia (SCA27B)Thomas Wirth, Guillemette Clément, Clarisse Delvallée, 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.European Journal of Human Genetics : EJHG|March 5, 2025
Novel MYH10 heterozygous variants associated to a syndrome combining mainly ptosis and ocular coloboma expand the MYH10 related phenotypesSophie Scheidecker, Séverine Bär, Ariane Kröll-Hermi, et al.Clinical Genetics|November 10, 2020
A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndromeClarisse Delvallée, Samuel Nicaise, Manuela Antin, et al.Pageof 1