Department of Ophthalmology (ceased 1-10-2018)
569 publications
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Pathogenic variants in the ABCC6 gene are associated with an increased risk for ischemic stroke
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Generation and validation of a complete knockout model of abcc6a in zebrafish
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Missing heritability in inherited blindness : ABCA4-associated disease as a model
(2018) -
- 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