Department of Ophthalmology (ceased 1-10-2018)
568 publications
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The potential ototoxicity of cobalt from metal-on-metal (MoM) hip prostheses : preliminary results
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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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Antisense oligonucleotide-based splice correction of two neighboring deep-intronic ABCA4 mutations causing Stargardt disease
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Functional characterization of N-terminal TIMP3 mutation underlying Sorsby fundus dystrophy in Belgian and French pedigrees
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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 spectrum of structural and functional abnormalities in female carriers of pathogenic variants in the RPGR gene
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Missing heritability in inherited blindness : ABCA4-associated disease as a model
(2018) -
Generation and validation of a complete knockout model of abcc6a in zebrafish
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Thrombomodulin and endothelial dysfunction : a disease-modifier shared between malignant hypertension and atypical hemolytic uremic syndrome
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Pathogenic variants in the ABCC6 gene are associated with an increased risk for ischemic stroke