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

ανά Montioli, Riccardo, Roncador, Alessandro, Oppici, Elisa, Mandrile, Giorgia, Giachino, Daniela Francesca, Cellini, Barbara, Borri Voltattorni, Carla
Έκδοση 2014

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

ανά Mandrile, Giorgia, Di Gregorio, Eleonora, Calcia, Alessandro, Brussino, Alessandro, Grosso, Enrico, Savin, Elisa, Giachino, Daniela Francesca, Brusco, Alfredo
Τόπος έκδοσης Case Rep Genet (2014)

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

ανά Ricci, Maria Teresa, Menegon, Silvia, Vatrano, Simona, Mandrile, Giorgia, Cerrato, Natascia, Carvalho, Paula, De Marchi, Mario, Gaita, Fiorenzo, Giustetto, Carla, Giachino, Daniela Francesca
Τόπος έκδοσης Sci Rep (2014)

Workload measurement for molecular genetics laboratory: A survey study

ανά Tagliafico, Enrico, Bernardis, Isabella, Grasso, Marina, D’Apice, Maria Rosaria, Lapucci, Cristina, Botta, Annalisa, Giachino, Daniela Francesca, Marinelli, Maria, Primignani, Paola, Russo, Silvia, Sani, Ilaria, Seia, Manuela, Fini, Sergio, Rimessi, Paola, Tenedini, Elena, Ravani, Anna, Genuardi, Maurizio, Ferlini, Alessandra
Τόπος έκδοσης PLoS One (2018)