Fibrinogen Brescia : Hepatic Endoplasmic Reticulum Storage and Hypofibrinogenemia Because of a γ284 Gly→Arg Mutation

by Brennan, Stephen O., Wyatt, Jane, Medicina, Daniela, Callea, Francesco, George, Peter M.
Published 2000

Three New Alpha1-Antitrypsin Deficiency Variants Help to Define a C-Terminal Region Regulating Conformational Change and Polymerization

by Fra, Anna M., Gooptu, Bibek, Ferrarotti, Ilaria, Miranda, Elena, Scabini, Roberta, Ronzoni, Riccardo, Benini, Federica, Corda, Luciano, Medicina, Daniela, Luisetti, Maurizio, Schiaffonati, Luisa
Published 2012

Mineralization of alpha-1-antitrypsin inclusion bodies in Mmalton alpha-1-antitrypsin deficiency

by Callea, Francesco, Giovannoni, Isabella, Francalanci, Paola, Boldrini, Renata, Faa, Gavino, Medicina, Daniela, Nobili, Valerio, Desmet, Valeer J., Ishak, Kamal, Seyama, Kuniaki, Bellacchio, Emanuele
Published in Orphanet J Rare Dis (2018)

A Rare Complex BRAF Mutation Involving Codon V600 and K601 in Primary Cutaneous Melanoma: Case Report

by Consoli, Francesca, Barbieri, Gianluca, Picciolini, Matteo, Medicina, Daniela, Bugatti, Mattia, Tovazzi, Valeria, Liserre, Barbara, Zambelli, Claudia, Zorzi, Fausto, Berruti, Alfredo, Giurisato, Emanuele, Vermi, William
Published in Front Oncol (2020)

Glutamine synthetase expression as a valuable marker of epilepsy and longer survival in newly diagnosed glioblastoma multiforme

by Rosati, Anna, Poliani, Pietro Luigi, Todeschini, Alice, Cominelli, Manuela, Medicina, Daniela, Cenzato, Marco, Simoncini, Edda Lucia, Magrini, Stefano Maria, Buglione, Michela, Grisanti, Salvatore, Padovani, Alessandro
Published 2013

Identification and characterisation of eight novel SERPINA1 Null mutations

by Ferrarotti, Ilaria, Carroll, Tomás P, Ottaviani, Stefania, Fra, Anna M, O’Brien, Geraldine, Molloy, Kevin, Corda, Luciano, Medicina, Daniela, Curran, David R, McElvaney, Noel G, Luisetti, Maurizio
Published in Orphanet J Rare Dis (2014)