Novel mutations of <it>TCOF1 </it>gene in European patients with treacher Collins syndrome

by Rinaldi Fabrizio, D'Apice Maria, Conte Chiara, Gambardella Stefano, Sangiuolo Federica, Novelli Giuseppe
Published 2011-09-01

Molecular analysis using DHPLC of cystic fibrosis: increase of the mutation detection rate among the affected population in Central Italy

by Nardone Anna, Russo Silvia, Bengala Mario, Gambardella Stefano, D'Apice Maria, Lucidi Vincenzina, Sangiuolo Federica, Novelli Giuseppe
Published 2004-04-01

Overexpression of microRNA-206 in the skeletal muscle from myotonic dystrophy type 1 patients

by Angelini Corrado, Loro Emanuele, Viola Antonella, Lepore Saverio M, Rinaldi Fabrizio, Gambardella Stefano, Vergani Lodovica, Novelli Giuseppe, Botta Annalisa
Published 2010-05-01

New PRSS1 and common CFTR mutations in a child with acute recurrent pancreatitis, could be considered an "Hereditary" form of pancreatitis ?

by Galli Elena, Piciucchi Matteo, D'Apice Maria R, Gullotta Francesca, Gambardella Stefano, Corleto Vito D, Lucidi Vincenzina, Novelli Giuseppe, Fave Gianfranco
Published 2010-10-01