- ORCID iD
- 0000-0003-4035-6389
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Anterior scleral thickness in Marfan syndrome : a quantitative analysis
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- Journal Article
- A1
- open access
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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Serum calcification propensity T50 associates with disease severity in patients with pseudoxanthoma elasticum
(2023) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 31(Supplement 1). p.388-389 -
A systematic approach to characterize the contribution of 5'UTR variation to inherited retinal disease
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- Conference Paper
- C3
- open access
Whole genome sequencing delineates novel non-coding variants and candidate genes in inherited retinal diseases
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- Conference Paper
- C3
- open access
Whole genome sequencing sheds light on the dark matter of the genome in patients with inherited retinal diseases
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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
- A2
- open access
An eye-opening case report of constrictive pericarditis
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- Journal Article
- A1
- open access
Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy