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Cell Reports|November 11, 2020
The Deubiquitinating Enzyme Ataxin-3 Regulates Ciliogenesis and Phagocytosis in the RetinaVasileios Toulis, Sílvia García-Monclús, Carlos de la Peña-Ramírez, et al.Neurobiology of Disease|May 23, 2022
Altered retinal structure and function in Spinocerebellar ataxia type 3Vasileios Toulis, Ricardo Casaroli-Marano, Anna Camós-Carreras, et al.Human Mutation|April 14, 2025
Disruption of OVOL2 Distal Regulatory Elements as a Possible Mechanism Implicated in Corneal Endothelial DystrophyLubica Dudakova, Lenka Noskova, Stanislav Kmoch, et al.Investigative Ophthalmology & Visual Science|August 3, 2026
Identification of a Duplication in the RP17 Locus in an Individual With Pathogenic CEP290 Variants: Implications for RP17 Variant ClassificationLara K Holtes, Di Chen, Siobhan Guilfoyle, et al.Human Molecular Genetics|March 4, 2025
A novel recurrent ARL3 variant c.209G > A p.(Gly70Glu) causes variable non-syndromic dominant retinal dystrophy with defective lipidated protein transport in human retinal stem cell modelsJulio C Corral-Serrano, Veronika Vaclavik, Stijn Van de Sompele, et al.Frontiers in Genetics|November 7, 2024
Identification of novel 3D-genome altering and complex structural variants underlying retinitis pigmentosa type 17 through a multistep and high-throughput approachSuzanne E de Bruijn, Daan M Panneman, Nicole Weisschuh, et al.Pageof 2