S81L and G170R mutations causing Primary Hyperoxaluria type I in homozygosis and heterozygosis: an example of positive interallelic complementation

Por Montioli, Riccardo, Roncador, Alessandro, Oppici, Elisa, Mandrile, Giorgia, Giachino, Daniela Francesca, Cellini, Barbara, Borri Voltattorni, Carla
Publicado em 2014

A New Case of 13q12.2q13.1 Microdeletion Syndrome Contributes to Phenotype Delineation

Por Mandrile, Giorgia, Di Gregorio, Eleonora, Calcia, Alessandro, Brussino, Alessandro, Grosso, Enrico, Savin, Elisa, Giachino, Daniela Francesca, Brusco, Alfredo
Publicado no Case Rep Genet (2014)

SCN1B gene variants in Brugada Syndrome: a study of 145 SCN5A-negative patients

Por Ricci, Maria Teresa, Menegon, Silvia, Vatrano, Simona, Mandrile, Giorgia, Cerrato, Natascia, Carvalho, Paula, De Marchi, Mario, Gaita, Fiorenzo, Giustetto, Carla, Giachino, Daniela Francesca
Publicado no Sci Rep (2014)