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- Journal Article
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- open access
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis
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Personalized genetic counseling for Stargardt disease : offspring risk estimates based on variant severity
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- Journal Article
- A1
- open access
Identification of splice defects due to noncanonical splice site or deep‐intronic variants in ABCA4
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- Journal Article
- A1
- open access
Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy
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Maternal uniparental isodisomy of chromosome 6 reveals a TULP1 mutation as a novel cause of cone dysfunction
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A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia
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Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy
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Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders