Results 221 to 230 of about 29,682 (236)

Retinal Dystrophies

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

Molecular and phenotypic investigation of a New Zealand cohort of childhood‐onset retinal dystrophy

American Journal of Medical Genetics, Part C: Seminars in Medical Genetics, 2020
Sarah Hull, Gulunay Kiray, John Chiang   +2 more
exaly  

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

Ophthalmic Genetics, 1983
Kenji Wakabayashi, Kazuo Kawasaki
exaly  

RETINAL DYSTROPHIES

1977
openaire   +1 more source

A novel, homozygous nonsense variant of the CDHR1 gene in a Chinese family causes autosomal recessive retinal dystrophy by NGS‐based genetic diagnosis

Journal of Cellular and Molecular Medicine, 2018
Junjiang Fu, Jingliang Cheng, Lisha Yang   +2 more
exaly  

RETINAL DYSTROPHIES

2019
openaire   +1 more source

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

European Journal of Ophthalmology, 2003
M Borrelli
exaly  

Antibody deficiency, growth retardation, spondyloepiphyseal dysplasia and retinal dystrophy: a novel syndrome

Clinical Genetics, 1999
Chaim M Roifman
exaly  

Inherited retinal dystrophies

2022
openaire   +1 more source

A medley of retinal dystrophies

Nature Genetics, 1993
Gabriel H. Travis, Jessie E. Hepler
openaire   +1 more source