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Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 7/2014, Volume 111, Issue 27, pp. 9893 - 9898
Journal Article
European journal of human genetics, ISSN 1018-4813, 2017, Volume 25, Issue 5, pp. 591 - 599
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 02/2016, Volume 24, Issue 2, pp. 214 - 220
Journal Article
Brain, ISSN 0006-8950, 11/2017, Volume 140, Issue 11, pp. 2879 - 2894
Journal Article
American Journal of Ophthalmology, ISSN 0002-9394, 10/2017, Volume 182, pp. 81 - 89
Journal Article
Human Mutation, ISSN 1059-7794, 10/2010, Volume 31, Issue 10, pp. E1709 - E1766
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
Journal of Medical Genetics, ISSN 0022-2593, 2016, Volume 53, Issue 1, pp. 62 - 72
Journal Article