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Cell Reports, ISSN 2211-1247, 01/2015, Volume 10, Issue 2, pp. 148 - 161
Journal Article
Clinical Genetics, ISSN 0009-9163, 12/2018, Volume 94, Issue 6, pp. 554 - 563
Retinal dystrophies (RDs) are hereditary blinding eye conditions that are highly variable in their clinical presentation. The remarkable genetic heterogeneity... 
PHF3 | SVOPL | Treatable | disease burden | HOOK2 | GENOTYPE-PHENOTYPE CORRELATION | GENETICS & HEREDITY | COHORT | SPECTRUM | Genetic research | Genetic aspects | Nucleotide sequencing | Genes | Genomics | DNA sequencing | Retina | Mutation | Clonal deletion | Gene deletion | Gene mapping
Journal Article
Transactions of the American Ophthalmological Society, ISSN 0065-9533, 2015, Volume 113, pp. T7 - T7
To assess for phenotype-genotype correlations in families with recessive pediatric cataract and identified gene mutations. Retrospective review (2004 through... 
Humans | Cataract - pathology | Child, Preschool | Genes, Recessive | Saudi Arabia | Phenotype | Adolescent | Cataract - genetics | Female | Retrospective Studies | Eye Proteins - genetics | Mutation | Child | Cohort Studies | Index Medicus
Journal Article
Genome Biology, ISSN 1474-7596, 11/2016, Volume 17, Issue 1, pp. 242 - 242
Journal Article
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 08/2013, Volume 93, Issue 2, pp. 313 - 320
Journal Article
Journal Article