Showing results (71-80 of 81) with videos related to

Sort By:
Pageof 9
Ophthalmic Genetics|September 28, 2020
Exploring microperimetry and autofluorescence endpoints for monitoring disease progression in PRPF31-associated retinopathyDanial Roshandel, Jennifer A Thompson, Jason Charng, et al.
Stem Cell Research|December 28, 2020
Generation of three induced pluripotent stem cell lines from a patient with Usher syndrome caused by biallelic c.949C > A and c.1256G > T mutations in the USH2A geneKhine Zaw, Elaine Y M Wong, Xiao Zhang, et al.
Ophthalmic Genetics|February 24, 2021
Deep clinical phenotyping and gene expression analysis in a patient with RCBTB1-associated retinopathyZhiqin Huang, Dan Zhang, Jennifer A Thompson, et al.
Molecular Genetics & Genomic Medicine|July 7, 2020
Phenotype-genotype correlations in a pseudodominant Stargardt disease pedigree due to a novel ABCA4 deletion-insertion variant causing a splicing defectDi Huang, Jennifer A Thompson, Jason Charng, et al.
Molecular Therapy. Nucleic Acids|January 15, 2026
Using RNA-targeting CRISPR-Cas13 and engineered U1 systems to target ABCA4 splice variants in Stargardt diseaseRoxanne Hsiang-Chi Liou, Daniel Urrutia-Cabrera, Chia-Fei Liu, et al.
Experimental Eye Research|October 9, 2022
Characterising splicing defects of ABCA4 variants within exons 13-50 in patient-derived fibroblastsDi Huang, Jennifer A Thompson, Shang-Chih Chen, et al.
Genes|October 23, 2021
Determinants of Disease Penetrance in PRPF31-Associated RetinopathySamuel McLenachan, Dan Zhang, Janya Grainok, et al.
Investigative Ophthalmology & Visual Science|April 14, 2026
ABCA4 Versus PRPH2-Associated Retinopathy: Clinical and Electrophysiological FindingsRachael C Heath Jeffery, Jennifer A Thompson, Johnny Lo, et al.
Investigative Ophthalmology & Visual Science|May 14, 2024
Retinal Dystrophies Associated With Peripherin-2: Genetic Spectrum and Novel Clinical Observations in 241 PatientsRachael C Heath Jeffery, Jennifer A Thompson, Johnny Lo, et al.
Medrxiv : the Preprint Server for Health Sciences|October 14, 2024
Genetic Risk of Reticular Pseudodrusen in Age-Related Macular Degeneration: HTRA1 /lncRNA BX842242.1 dominates, with no evidence for Complement Cascade involvementSamaneh Farashi, Carla J Abbott, Brendan Re Ansell, et al.
Pageof 9