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Found 12 publications

Diagnostics of inherited retinal degenerations by gene therapy.

Noncoding mutation in RPGRIP1 contributes to inherited retinal degenerations.

Extending the phenotypic spectrum of PRPF8, PRPH2, RP1 and RPGR, and the genotypic spectrum of early-onset severe retinal dystrophy.

Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration.

Whole Locus Sequencing Identifies a Prevalent Founder Deep Intronic RPGRIP1 Pathologic Variant in the French Leber Congenital Amaurosis Cohort.

New Insights on the Genetic Basis Underlying SHILCA Syndrome: Characterization of the NMNAT1 Pathological Alterations Due to Compound Heterozygous Mutations and Identification of a Novel Alternative Isoform.

Novel gene variants in Polish patients with Leber congenital amaurosis (LCA).

A Mild Phenotype Caused by Two Novel Compound Heterozygous Mutations in CEP290.

Threatening drug-drug interaction in a kidney transplant patient with coronavirus disease 2019 (COVID-19).

The effect of human gene therapy for RPE65-associated Leber's congenital amaurosis on visual function: a systematic review and meta-analysis.

Efficacy of topical brinzolamide in children with retinal dystrophies.

Effect of an intravitreal antisense oligonucleotide on vision in Leber congenital amaurosis due to a photoreceptor cilium defect.

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