Showing results (1-10 of 16) with videos related to

Sort By:
Pageof 2
American Journal of Ophthalmology|June 30, 2024
RDH5 and RLBP1-Associated Inherited Retinal Diseases: Refining the Spectrum of Stationary and Progressive PhenotypesLorenzo Bianco, Alessio Antropoli, Amine Benadji, et al.
Ophthalmology|April 7, 2024
Extensive Macular Atrophy with Pseudodrusen-like appearance: Progression Kinetics and Late-Stage FindingsAlessio Antropoli, Lorenzo Bianco, Christel Condroyer, et al.
Genetics|May 24, 2017
High-Resolution Mapping of Crossover Events in the Hexaploid Wheat Genome Suggests a Universal Recombination MechanismBenoit Darrier, Hélène Rimbert, François Balfourier, et al.
JAMA Ophthalmology|October 20, 2022
Association of Missense Variants in VSX2 With a Peculiar Form of Congenital Stationary Night Blindness Affecting All Bipolar CellsVasily M Smirnov, Matthieu P Robert, Christel Condroyer, et al.
Investigative Ophthalmology & Visual Science|April 2, 2025
Phenotypic and Genotypic Characterization of RP1L1-Associated RetinopathyAlessio Antropoli, Lorenzo Bianco, Xavier Zanlonghi, et al.
Research Square|June 5, 2025
Variants in the ciliopathy gene SCLT1 are associated with non-syndromic retinal degenerationRiccardo Sangermano, Kaoru Fujinami, Suk Ho Byeon, et al.
Investigative Ophthalmology & Visual Science|April 22, 2025
PCARE-Associated Retinopathy - Genetics, Clinical Characteristics, and Natural HistoryLorenzo Bianco, Alessio Antropoli, Amine Benadji, et al.
NPJ Genomic Medicine|April 10, 2026
Variants in the ciliopathy gene SCLT1 are associated with non-syndromic and syndromic retinal degeneration of variable severityRiccardo Sangermano, Kaoru Fujinami, Suk Ho Byeon, et al.
Scientific Reports|June 23, 2026
The ITM2B-associated retinal dystrophy mutation modifies BRI23 peptide interactions in the human retinaTasnim Ben Yacoub, Andréa Amprou, Camille Letellier, et al.
JAMA Ophthalmology|December 4, 2025
EGFLAM Pathogenic Variants and Congenital Stationary Night BlindnessSanja Boranijasevic, Vasily Smirnov, Julien Navarro, et al.
Pageof 2