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- Journal Article
- A1
- open access
Outcome of cataract surgery in patients with retinitis pigmentosa
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- Journal Article
- A2
- open access
The natural history of leber congenital amaurosis and cone–rod dystrophy associated with variants in the GUCY2D gene
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- Journal Article
- A1
- open access
X-linked Retinoschisis : novel clinical observations and genetic spectrum in 340 patients
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- Conference Paper
- C3
- open access
Evaluation of visual outcome following cataract surgery in patients with retinitis pigmentosa
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- Journal Article
- A1
- open access
Clinical characteristics and natural history of rho-associated retinitis pigmentosa : a long-term follow-up study
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- Journal Article
- A1
- open access
The phenotypic spectrum of patients with PHARC syndrome due to variants in ABHD12 : an ophthalmic perspective
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- Journal Article
- A1
- open access
Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics
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Resolving the dark matter of ABCA4 for 1,054 Stargardt disease probands through integrated genomics and transcriptomics
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- Journal Article
- A1
- open access
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