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Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides
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- Journal Article
- A1
- open access
Clinical characterization of 66 patients with congenital retinal disease due to the deep-intronic c.2991+1655A>G mutation in CEP290
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- Journal Article
- A1
- open access
The Rotterdam study : 2018 update on objectives, design and main results
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Visual prognosis in USH2A-associated retinitis pigmentosa is worse for patients with Usher syndrome type IIa than for those with nonsyndromic retinitis pigmentosa
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- Journal Article
- A1
- open access
The Rotterdam Study : 2016 objectives and design update
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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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Screening of a large cohort of Leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations
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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