- ORCID iD
-
0000-0003-4035-6389
Show
Sort by
-
Phenotyping vestibulocochlear manifestations in Susac syndrome : a cohort study
-
Anterior scleral thickness in Marfan syndrome : a quantitative analysis
-
- Journal Article
- A1
- open access
Cognitive outcomes in Susac syndrome : a 2-year neuropsychological follow-up study
-
- Journal Article
- A1
- open access
Combining a prioritization strategy and functional studies nominates 5'UTR variants underlying inherited retinal disease
-
Pathogenicity of mutation in MT-ND1 (m. 3796A>G) in a family with "Leber Hereditary Optic Neuropathy Plus Phenotype"
-
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
-
- Conference Paper
- C3
- open access
Whole genome sequencing delineates novel non-coding variants and candidate genes in inherited retinal diseases
-
- Conference Paper
- C3
- open access
Whole genome sequencing sheds light on the dark matter of the genome in patients with inherited retinal diseases
-
- Journal Article
- A1
- open access
Atypical clinical and novel radiological findings in Susac syndrome : experience from a large monocentric cohort