Gingival Overgrowths Revealing PTEN Hamartoma Tumor Syndrome: Report of Novel PTEN Pathogenic Variants

por Sutera, Samuele, Giachino, Daniela Francesca, Pelle, Alessandra, Zuntini, Roberta, Pentenero, Monica
Publicado 2022

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 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 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 2014

Workload measurement for molecular genetics laboratory: A survey study

por 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
Publicado 2018