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The American Journal of Human Genetics, ISSN 0002-9297, 04/2017, Volume 100, Issue 4, pp. 592 - 604
Journal Article
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
Pharmacogenomics Journal, ISSN 1470-269X, 04/2013, Volume 13, Issue 2, pp. 197 - 204
Journal Article
PLoS ONE, ISSN 1932-6203, 04/2016, Volume 11, Issue 4, pp. e0151943 - e0151943
Journal Article
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
PLOS ONE, ISSN 1932-6203, 03/2016, Volume 11, Issue 3, p. e65574
Journal Article
Pharmacogenetics and Genomics, ISSN 1744-6872, 11/2013, Volume 23, Issue 11, pp. 627 - 630
Journal Article
Journal Article
PLoS ONE, ISSN 1932-6203, 06/2013, Volume 8, Issue 6, pp. e65574 - e65574
Background: Retinal dystrophies (RD) are a group of hereditary diseases that lead to debilitating visual impairment and are usually transmitted as a Mendelian... 
LEBER CONGENITAL AMAUROSIS | RP1 | GENE | USHER-SYNDROME | MULTIDISCIPLINARY SCIENCES | RECESSIVE RETINITIS-PIGMENTOSA | GENOTYPING MICROARRAY | MODIFIER ALLELES | MUTATIONS | IDENTIFICATION | SPANISH FAMILIES | Genetic Predisposition to Disease - genetics | Extracellular Matrix Proteins - genetics | Humans | Cyclic Nucleotide-Gated Cation Channels - genetics | Retinitis Pigmentosa - genetics | Male | Leber Congenital Amaurosis - genetics | Spain | Exome - genetics | ATP-Binding Cassette Transporters - genetics | Usher Syndromes - genetics | Pedigree | Adaptor Proteins, Signal Transducing - genetics | Nicotinamide-Nucleotide Adenylyltransferase - genetics | Female | Eye Proteins - genetics | Retinal Dystrophies - genetics | Genetic aspects | Genetic disorders | Disease transmission | Nucleotide sequencing | Genes | DNA sequencing | USH2A protein | Retinitis pigmentosa | Retina | Identification | Genomes | Hybridization | Medical diagnosis | Gene sequencing | Genetics | Diagnosis | Genotypes | Deoxyribonucleic acid--DNA | Visually handicapped people | Data analysis | Congenital diseases | Data processing | Patients | Hereditary diseases | Studies | Blindness | Acetylcholine receptors | Diagnostic systems | Retinitis | Mutation | Dystrophy | Genetic testing | Cost analysis | Index Medicus | Deoxyribonucleic acid | DNA
Journal Article