Paolo Uva
0000-0002-9524-8492
5 papers found
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Moyamoya Vasculopathy in Neurofibromatosis Type 1 Pediatric Patients: The Role of Rare Variants of RNF213
De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes
Pathologic up-regulation of TNFSF15–TNFRSF25 axis sustains endothelial dysfunction in unprovoked venous thromboembolism
Efficacy of lentivirus-mediated gene therapy in an Omenn syndrome recombination-activating gene 2 mouse model is not hindered by inflammation and immune dysregulation
OpenEHR modeling for genomics in clinical practice
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