RPE65-associated inherited retinal diseases: consensus recommendations for eligibility to gene therapy

av Sodi, Andrea, Banfi, Sandro, Testa, Francesco, Della Corte, Michele, Passerini, Ilaria, Pelo, Elisabetta, Rossi, Settimio, Simonelli, Francesca
I publikationen Orphanet J Rare Dis (2021)

S737F is a new CFTR mutation typical of patients originally from the Tuscany region in Italy

av Terlizzi, Vito, Di Lullo, Antonella Miriam, Comegna, Marika, Centrone, Claudia, Pelo, Elisabetta, Castaldo, Giuseppe, Raia, Valeria, Braggion, Cesare
I publikationen Ital J Pediatr (2018)

Defining the diagnostic effectiveness of genes for inclusion in panels: the experience of two decades of genetic testing for hypertrophic cardiomyopathy at a single center

av Mazzarotto, Francesco, Girolami, Francesca, Boschi, Beatrice, Barlocco, Fausto, Tomberli, Alessia, Baldini, Katia, Coppini, Raffaele, Tanini, Ilaria, Bardi, Sara, Contini, Elisa, Cecchi, Franco, Pelo, Elisabetta, Cook, Stuart A., Cerbai, Elisabetta, Poggesi, Corrado, Torricelli, Francesca, Walsh, Roddy, Olivotto, Iacopo
I publikationen Genet Med (2018)