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JAMA OPHTHALMOLOGY, ISSN 2168-6165, 02/2015, Volume 133, Issue 2, pp. 133 - 139
IMPORTANCE The families evaluated in this study represent the second report of cone-rod dystrophy (CRD) cases caused by mutations in RAB28, a recently... 
OPHTHALMOLOGY | MUTATIONS | RETINITIS-PIGMENTOSA | GTPASE | ABCR
Journal Article
Scientific Reports, ISSN 2045-2322, 10/2016, Volume 6, Issue 1, pp. 35370 - 35370
Journal Article
PLoS ONE, ISSN 1932-6203, 04/2016, Volume 11, Issue 4, pp. e0151943 - e0151943
Journal Article
Journal Article
JOURNAL OF INORGANIC BIOCHEMISTRY, ISSN 0162-0134, 10/2012, Volume 115, pp. 44 - 49
Journal Article
Ophthalmology, ISSN 0161-6420, 2019, Volume 126, Issue 8, pp. 1181 - 1188
Purpose: We aimed to unravel the molecular basis of sporadic retinitis pigmentosa (sRP) in the largest cohort reported to date. Design: Case series.... 
VITAMIN-E-DEFICIENCY | HETEROGENEITY | DIAGNOSIS | GENE | GUIDELINES | PHENOTYPIC VARIABILITY | OPHTHALMOLOGY | MUTATIONS | ATAXIA | ASSOCIATION | SPANISH FAMILIES | Retinitis pigmentosa | Analysis
Journal Article
Journal Article
EJNMMI Research, ISSN 1069-9384, 12/2014, Volume 4, Issue 1, pp. 1 - 13
Journal Article
Clinical Genetics, ISSN 0009-9163, 08/2014, Volume 86, Issue 2, pp. 167 - 171
Journal Article