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Discovery, replication and characterization of a novel dominantRPE65-related retinopathy due to founder variant p.(E519K) expanding the therapeutic potential
(2025) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 33(Supplement 1). p.94-95 -
- Journal Article
- A1
- open access
RPE65 variant p.(E519K) causes a novel dominant adult-onset maculopathy in 83 affected individuals
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- Journal Article
- A1
- open access
Blood transcriptomics to facilitate diagnosis and stratification in pediatric rheumatic diseases : a proof of concept study