Results 201 to 210 of about 27,235 (216)

Retinal Dystrophies

Vanessa Cruz-Villegas, Heeral R. Shah, Jay S. Duker, Shilpa J. Desai, Carmen A. Puliafito   +4 more
openaire   +1 more source

Electrophysiological analysis of Best's macular dystrophy and retinal pigment epithelial pattern dystrophy

Ophthalmic Genetics, 1983
Kenji Wakabayashi
exaly  

Efficacy and safety of voretigene neparvovec (AAV2-hRPE65v2) in patients with RPE65 -mediated inherited retinal dystrophy: a randomised, controlled, open-label, phase 3 trial

Lancet, The, 2017
Leslie Raffini, Francesca Simonelli, Chris Johnson   +2 more
exaly  

A Distinct Vitreo-retinal Dystrophy with Early-onset Cataract from RecessiveKCNJ13Mutations

Ophthalmic Genetics, 2015
Hanno Bolz, Arif Khan, Christine Neuhaus   +2 more
exaly  

RETINAL DYSTROPHIES

1977
openaire   +1 more source

Oculopharyngeal Muscular Dystrophy and Inherited Retinal Dystrophy in Bukhara Jews Due to Linked Mutations in the PABPN1 and NRL Genes

Genetic Testing and Molecular Biomarkers, 2017
Beatrice Tiosano, Morad Khayat, Rana Hanna   +2 more
exaly  

The Phenotypic Variability of Retinal Dystrophies Associated With Mutations in CRX, With Report of a Novel Macular Dystrophy Phenotype

Investigative Ophthalmology and Visual Science, 2014
Dorothy A Thompson, Andrew R Webster, Anthony Moore   +2 more
exaly  

RETINAL DYSTROPHIES

2019
openaire   +1 more source

Inner retinal dystrophy in a patient with biallelic sequence variants in BRAT1

Ophthalmic Genetics, 2017
Anne Slavotinek, Jacque Duncan, Creig S Hoyt   +2 more
exaly  

Sjögren Reticular Dystrophy of the Retinal Pigment Epithelium: A Case Report

European Journal of Ophthalmology, 2003
M Borrelli
exaly