Unravelling the genetics of inherited retinal dystrophies: Past, present and future
Author:
Publisher
Elsevier BV
Subject
Sensory Systems,Ophthalmology
Reference528 articles.
1. A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family;Abdelhak;Nat. Genet.,1997
2. Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes;Abu-Safieh;Genome Res.,2013
3. Retinal degenerations in the dog: IV. Early retinal degeneration (erd) in Norwegian elkhounds;Acland;Exp. Eye Res.,1987
4. Gene therapy restores vision in a canine model of childhood blindness;Acland;Nat. Genet.,2001
5. The genome sequence of Drosophila melanogaster;Adams;Science,2000
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