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Journal Article
Journal Article
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, ISSN 0146-0404, 06/2017, Volume 58, Issue 8
Conference Proceeding
Nature Genetics, ISSN 1061-4036, 2010, Volume 42, Issue 10, pp. 840 - 850
Journal Article
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, ISSN 0146-0404, 09/2018, Volume 59, Issue 11, pp. 4384 - 4391
Purpose: To describe the phenotypic spectrum of retinal disease caused by the c.2991+1655A>G mutation in CEP290 and to compare disease severity between... 
genetic diseases | low vision | retinal dystrophy | AMAUROSIS | PHENOTYPE | RPE65 MUTATIONS | MECHANISMS | IDENTIFICATION | visual development | DEGENERATION | FEATURES | THERAPY | GENE | retina | DYSTROPHY | OPHTHALMOLOGY
Journal Article
Journal Article
HUMAN GENE THERAPY, ISSN 1043-0342, 11/2014, Volume 25, Issue 11, pp. A106 - A107
Conference Proceeding
Ophthalmology, ISSN 0161-6420, 2016, Volume 123, Issue 6, pp. 1375 - 1385
Journal Article