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PLoS ONE, ISSN 1932-6203, 07/2018, Volume 13, Issue 7, pp. e0200789 - e0200789
Journal Article
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, ISSN 0146-0404, 05/2019, Volume 60, Issue 6, pp. 2049 - 2063
PURPOSE. To assess the phenotypic variability and natural course of inherited retinal diseases (IRDs) caused by EYS mutations. METHODS. Multiethnic cohort... 
ORTHOLOG | RECESSIVE RETINITIS-PIGMENTOSA | macular dystrophy | IDENTIFICATION | inherited retinal disease | GENE | retinitis pigmentosa | OPHTHALMOLOGY | cone-rod dystrophy | MUTATIONS | JAPANESE PATIENTS | EYS | PROGRESSION
Journal Article
Investigative Ophthalmology and Visual Science, ISSN 0146-0404, 09/2018, Volume 59, Issue 11, pp. 4384 - 4391
To describe the phenotypic spectrum of retinal disease caused by the c.2991+1655A>G mutation in CEP290 and to compare disease severity between homozygous and... 
Visual development | Retina | Low vision | Genetic diseases | Retinal dystrophy | Index Medicus
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 06/2017, Volume 100, Issue 6, p. 960
Familial exudative vitreoretinopathy (FEVR) is an inherited blinding disorder characterized by the abnormal development of the retinal vasculature. The... 
Causes of | Genetic aspects | Gene mutations | Retinal diseases | Health aspects
Journal Article
Genes, ISSN 2073-4425, 03/2018, Volume 9, Issue 3, p. 145
The authors wish to make the following correction to this paper [1]. [...]. 
n/a
Journal Article
Methods in Molecular Biology, ISSN 1064-3745, 2018, Volume 1715, pp. 61 - 78
Journal Article
Journal Article
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