- ORCID iD
- 0000-0003-4035-6389
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- Journal Article
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Cognitive outcomes in Susac syndrome : a 2-year neuropsychological follow-up study
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- Journal Article
- A1
- open access
Combining a prioritization strategy and functional studies nominates 5'UTR variants underlying inherited retinal disease
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- Journal Article
- A1
- open access
Atypical clinical and novel radiological findings in Susac syndrome : experience from a large monocentric cohort
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- Journal Article
- A1
- open access
Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy
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- Journal Article
- A1
- open access
Intravitreal antisense oligonucleotide sepofarsen in Leber congenital amaurosis type 10 : a phase 1b/2 trial