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Hypomethylation of the IL17RC promoter in peripheral blood leukocytes is not a hallmark of age-related macular degeneration.
Not available
S-EPMC3926096
|
biostudies-literature
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Structure-Function Modeling of Optical Coherence Tomography and Standard Automated Perimetry in the Retina of Patients with Autosomal Dominant Retinitis Pigmentosa.
Not available
S-EPMC4741516
|
biostudies-literature
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Genetic heterogeneity of Usher syndrome: analysis of 151 families with Usher type I.
Not available
S-EPMC1287932
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biostudies-literature
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CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness.
Not available
S-EPMC379159
|
biostudies-literature
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Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing.
Not available
S-EPMC3932025
|
biostudies-literature
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Deep-intronic variants in CNGB3 cause achromatopsia by pseudoexon activation.
Not available
S-EPMC8182131
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biostudies-literature
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Deciphering the genetic architecture and ethnographic distribution of IRD in three ethnic populations by whole genome sequence analysis.
Not available
S-EPMC8589175
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biostudies-literature
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Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations.
Not available
S-EPMC4337959
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biostudies-literature
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Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements.
Not available
S-EPMC3945441
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biostudies-literature
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Identification of a rare coding variant in complement 3 associated with age-related macular degeneration.
Not available
S-EPMC3812337
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biostudies-literature
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