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Journal Article
Genetics in Medicine, ISSN 1098-3600, 06/2012, Volume 14, Issue 6, pp. 563 - 563
Journal Article
Journal Article
Nature Medicine, ISSN 1078-8956, 02/2019, Volume 25, Issue 2, pp. 225 - 228
Journal Article
American Journal of Ophthalmology, ISSN 0002-9394, 11/2019, Volume 207, pp. 204 - 214
To describe the genetic and phenotypic characteristics of a cohort of patients with variants. Case-case study. We screened a cohort of 2216 families with... 
Journal Article
Human Mutation, ISSN 1059-7794, 12/2015, Volume 36, Issue 12, pp. 1188 - 1196
Leber congenital amaurosis (LCA) is a severe autosomal‐recessive retinal dystrophy leading to congenital blindness. A recently identified LCA gene is NMNAT1 ,... 
Leber congenital amaurosis | 5′UTR variants | NMNAT1 | LCA9 | Alu‐mediated deletions | Alu-mediated deletions | AMAUROSIS | 5'-UTR | 5 ' UTR variants | DISEASE | GENETICS & HEREDITY | EXPRESSION | TOOL | Life Sciences
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