A 22-Week-Old Fetus with Nager Syndrome and Congenital Diaphragmatic Hernia due to a Novel SF3B4 Mutation

Por Castori, Marco, Bottillo, Irene, D'Angelantonio, Daniela, Morlino, Silvia, De Bernardo, Carmelilia, Scassellati Sforzolini, Giovanna, Silvestri, Evelina, Grammatico, Paola
Publicado em 2014

Association of hepcidin promoter c.-582 A>G variant and iron overload in thalassemia major

Por Andreani, Marco, Radio, Francesca Clementina, Testi, Manuela, De Bernardo, Carmelilia, Troiano, Maria, Majore, Silvia, Bertucci, Pierfrancesco, Polchi, Paola, Rosati, Renata, Grammatico, Paola
Publicado em 2009

Disorders of sex development: a genetic study of patients in a multidisciplinary clinic

Por Laino, Luigi, Majore, Silvia, Preziosi, Nicoletta, Grammatico, Barbara, De Bernardo, Carmelilia, Scommegna, Salvatore, Rapone, Anna Maria, Marrocco, Giacinto, Bottillo, Irene, Grammatico, Paola
Publicado em 2014

Prenatal diagnosis and post-mortem examination in a fetus with thrombocytopenia-absent radius (TAR) syndrome due to compound heterozygosity for a 1q21.1 microdeletion and a RBM8A h...

Por Bottillo, Irene, Castori, Marco, De Bernardo, Carmelilia, Fabbri, Romano, Grammatico, Barbara, Preziosi, Nicoletta, Scassellati, Giovanna Sforzolini, Silvestri, Evelina, Spagnuolo, Antonella, Laino, Luigi, Grammatico, Paola
Publicado em 2013

Prediction and visualization data for the interpretation of sarcomeric and non-sarcomeric DNA variants found in patients with hypertrophic cardiomyopathy

Por Bottillo, Irene, D’Angelantonio, Daniela, Caputo, Viviana, Paiardini, Alessandro, Lipari, Martina, De Bernardo, Carmelilia, Majore, Silvia, Castori, Marco, Zachara, Elisabetta, Re, Federica, Grammatico, Paola
Publicado no Data Brief (2016)