Hereditary Xerocytosis due to Mutations in PIEZO1 Gene Associated with Heterozygous Pyruvate Kinase Deficiency and Beta-Thalassemia Trait in Two Unrelated Families

por Fermo, Elisa, Vercellati, Cristina, Marcello, Anna Paola, Zaninoni, Anna, van Wijk, Richard, Mirra, Nadia, Curcio, Cristina, Cortelezzi, Agostino, Zanella, Alberto, Barcellini, Wilma, Bianchi, Paola
Publicado 2017

‘Gardos Channelopathy’: a variant of hereditary Stomatocytosis with complex molecular regulation

por Fermo, Elisa, Bogdanova, Anna, Petkova-Kirova, Polina, Zaninoni, Anna, Marcello, Anna Paola, Makhro, Asya, Hänggi, Pascal, Hertz, Laura, Danielczok, Jens, Vercellati, Cristina, Mirra, Nadia, Zanella, Alberto, Cortelezzi, Agostino, Barcellini, Wilma, Kaestner, Lars, Bianchi, Paola
Publicado 2017

Low-dose Synachten test with measurement of salivary cortisol in adult patients with β-thalassemia major

por Ambrogio, Alberto G., Danesi, Leila, Baldini, Marina, Radin, Raffaella, Cassinerio, Elena, Graziadei, Giovanna, Mirra, Nadia, D’Angelo, Emanuela, Marcon, Alessia, Mancarella, Marta, Orsatti, Alessandra, Bonetti, Federico, Scacchi, Massimo, Cappellini, Maria Domenica, Persani, Luca, Pecori Giraldi, Francesca
Publicado 2018