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UnknownPrevalence of ABCA4 Deep-Intronic Variants and Related Phenotype in An Unsolved "One-Hit" Cohort with Stargardt Disease.
Not available
S-EPMC6829239 | biostudies-literature
UnknownMutation profile of glaucoma candidate genes in Mauritanian families with primary congenital glaucoma.
Not available
S-EPMC6639433 | biostudies-literature
UnknownNovel Missense Mutations in BEST1 Are Associated with Bestrophinopathies in Lebanese Patients.
Not available
S-EPMC6409913 | biostudies-literature
UnknownFurther Insights into the Ciliary Gene and Protein KIZ and Its Murine Ortholog PLK1S1 Mutated in Rod-Cone Dystrophy.
Not available
S-EPMC5664127 | biostudies-literature
UnknownLarge Benefit from Simple Things: High-Dose Vitamin A Improves RBP4-Related Retinal Dystrophy.
Not available
S-EPMC9223508 | biostudies-literature
UnknownIdentification of a Novel Homozygous Nonsense Mutation Confirms the Implication of GNAT1 in Rod-Cone Dystrophy.
Not available
S-EPMC5158031 | biostudies-literature
UnknownWhole-exome sequencing identifies KIZ as a ciliary gene associated with autosomal-recessive rod-cone dystrophy.
Not available
S-EPMC3980423 | biostudies-literature
UnknownEGFLAM Pathogenic Variants and Congenital Stationary Night Blindness.
Not available
S-EPMC12679428 | biostudies-literature
UnknownCoding and non-coding variants in the ciliopathy gene CFAP410 cause early-onset non-syndromic retinal degeneration.
Not available
S-EPMC11549414 | biostudies-literature
UnknownCoding and non-coding variants in the ciliopathy gene CFAP410 cause early-onset non-syndromic retinal degeneration.
Not available
S-EPMC10889070 | biostudies-literature
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