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Trends in Genetics, ISSN 0168-9525, 05/2018, Volume 34, Issue 5, pp. 341 - 351
Journal Article
Journal Article
Cell Reports, ISSN 2211-1247, 11/2016, Volume 17, Issue 9, pp. 2460 - 2473
Journal Article
Journal Article
Journal Article
Human mutation, ISSN 1059-7794, 9/2015, Volume 36, Issue 9, pp. 836 - 841
Genetic analysis of clinical phenotypes in consanguineous families is complicated by co-inheritance of large DNA regions carrying independent variants. Here we... 
DYSF | retinal degeneration | vision loss | pleiotropic phenotypes | ALMS1 | photoreceptor
Journal Article
Journal Article
Journal Article
Ophthalmology, ISSN 0161-6420, 2015, Volume 122, Issue 5, pp. 997 - 1007
Purpose Achromatopsia (ACHM) is a congenital, autosomal recessive retinal disease that manifests cone dysfunction, reduced visual acuity and color vision,... 
Ophthalmology | Genetic research | Molecular genetics | Color blindness | Analysis
Journal Article
Ophthalmology, ISSN 0161-6420, 2013, Volume 120, Issue 11, pp. 2338 - 2343
Objective To study the clinical variability and KCNV2 mutation spectrum in cone dystrophy with supernormal rod response (CDSRR) in the Israeli population.... 
Ophthalmology
Journal Article