Diabetic Ketoacidosis Complicated With Previously Unknown Gitelman Syndrome in a Tunisian Child

by Biagioni, Martina, Marigliano, Marco, Iannilli, Antonio, Cester, Annamaria, Gatti, Simona, D'Alba, Irene, Tedeschi, Silvana, Syren, Marie-Louise, Cherubini, Valentino
Published 2011

Clinical and molecular characterization of a cohort of patients with novel nucleotide alterations of the Dystrophin gene detected by direct sequencing

by Magri, Francesca, Del Bo, Roberto, D'Angelo, Maria G, Govoni, Alessandra, Ghezzi, Serena, Gandossini, Sandra, Sciacco, Monica, Ciscato, Patrizia, Bordoni, Andreina, Tedeschi, Silvana, Fortunato, Francesco, Lucchini, Valeria, Cereda, Matteo, Corti, Stefania, Moggio, Maurizio, Bresolin, Nereo, Comi, Giacomo P
Published 2011

Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype

by Brioschi, Simona, Gualandi, Francesca, Scotton, Chiara, Armaroli, Annarita, Bovolenta, Matteo, Falzarano, Maria S, Sabatelli, Patrizia, Selvatici, Rita, D’Amico, Adele, Pane, Marika, Ricci, Giulia, Siciliano, Gabriele, Tedeschi, Silvana, Pini, Antonella, Vercelli, Liliana, De Grandis, Domenico, Mercuri, Eugenio, Bertini, Enrico, Merlini, Luciano, Mongini, Tiziana, Ferlini, Alessandra
Published 2012