Identification of a New Mutation in RSK2, the Gene for Coffin–Lowry Syndrome (CLS), in Two Related Patients with Mild and Atypical Phenotypes

por Di Stazio, Mariateresa, Bigoni, Stefania, Iuso, Nicola, Vuch, Josef, Selvatici, Rita, Ulivi, Sheila, d’Adamo, Pio Adamo
Publicado 2021

Severe COVID-19 in Hospitalized Carriers of Single CFTR Pathogenic Variants

por Baldassarri, Margherita, Fava, Francesca, Fallerini, Chiara, Daga, Sergio, Benetti, Elisa, Zguro, Kristina, Amitrano, Sara, Valentino, Floriana, Doddato, Gabriella, Giliberti, Annarita, Di Sarno, Laura, Palmieri, Maria, Carriero, Miriam Lucia, Alaverdian, Diana, Beligni, Giada, Iuso, Nicola, Castelli, Francesco, Quiros-Roldan, Eugenia, Mondelli, Mario Umberto, Miceli, Rosalba, Frullanti, Elisa, Furini, Simone, Mari, Francesca, Renieri, Alessandra, Gabbi, Chiara
Publicado 2021

Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European males

por Baldassarri, Margherita, Picchiotti, Nicola, Fava, Francesca, Fallerini, Chiara, Benetti, Elisa, Daga, Sergio, Valentino, Floriana, Doddato, Gabriella, Furini, Simone, Giliberti, Annarita, Tita, Rossella, Amitrano, Sara, Bruttini, Mirella, Croci, Susanna, Meloni, Ilaria, Pinto, Anna Maria, Iuso, Nicola, Gabbi, Chiara, Sciarra, Francesca, Venneri, Mary Anna, Gori, Marco, Sanarico, Maurizio, Crawley, Francis P., Pagotto, Uberto, Fanelli, Flaminia, Mezzullo, Marco, Dominguez-Garrido, Elena, Planas-Serra, Laura, Schlüter, Agatha, Colobran, Roger, Soler-Palacin, Pere, Lapunzina, Pablo, Tenorio, Jair, Pujol, Aurora, Castagna, Maria Grazia, Marcelli, Marco, Isidori, Andrea M., Renieri, Alessandra, Frullanti, Elisa, Mari, Francesca
Publicado 2021