Showing results (1-10 of 8) with videos related to
Sort By:
Pageof 1
Stem Cell Research|April 26, 2026
Generation of an induced pluripotent stem cell line from an Alström syndrome patient with biallelic ALMS1 pathogenic variantsSamira Secula, Nejla Erkilic, Cathy Obringer, et al.Frontiers in Genetics|September 25, 2020
Atypical Retinal Phenotype in a Patient With Alström Syndrome and Biallelic Novel Pathogenic Variants in ALMS1, Including a de novo VariationLaura Mauring, Louise Frances Porter, Valerie Pelletier, et al.Reproductive Sciences (Thousand Oaks, Calif.)|April 25, 2024
Evaluation of an Updated Gene Panel as a Diagnostic Tool for Both Male and Female InfertilityÖzlem Okutman, Ali Sami Gürbüz, Ahmet Salvarci, 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.Clinical Genetics|May 4, 2020
High prevalence of Bardet-Biedl syndrome in La Réunion Island is due to a founder variant in ARL6/BBS3Aurélie Gouronc, Vincent Zilliox, Marie-Line Jacquemont, 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.Human Mutation|April 25, 2018
Whole-genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140Véronique Geoffroy, Corinne Stoetzel, Sophie Scheidecker, 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