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- Journal Article
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Comparative natural history of visual function from patients with biallelic variants in BBS1 and BBS10
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Antisense oligonucleotide-based correction of deep-intronic ABCA4 splice mutations using patient-derived fibroblasts and photoreceptor precursor cells
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Expansion of the role and functional characterization of a missense variant in CEP78 associated with cone-rod dystrophy and hearing loss
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CRISPR/Cas9 mediated knockout of rcbtb1 in Xenopus tropicalis to model RCBTB1-associated retinal disease
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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
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The spectrum of structural and functional abnormalities in female carriers of pathogenic variants in the RPGR gene
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Functional characterization of N-terminal TIMP3 mutation underlying Sorsby fundus dystrophy in Belgian and French pedigrees
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- Conference Paper
- C3
- open access
In-vitro estimation of O-2 concentrations during corneal cross-linking (CXL) for porcine corneas and collagen type-I gels
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- Journal Article
- A1
- open access
The retinal relaxing factor : update on an enigmatic regulator of the retinal circulation
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- Journal Article
- A1
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The ability of nitric oxide to lower intraocular pressure is dependent on guanylyl cyclase