Metabolic progression to clinical phenotype in classic Fabry disease

od Spada, Marco, Kasper, David, Pagliardini, Veronica, Biamino, Elisa, Giachero, Silvana, Porta, Francesco
izdano v Ital J Pediatr (2017)

Subtelomeric FISH analysis in 76 patients with syndromic developmental delay/intellectual disability

od Belligni, Elga F, Biamino, Elisa, Molinatto, Cristina, Messa, Jole, Pierluigi, Mauro, Faravelli, Francesca, Zuffardi, Orsetta, Ferrero, Giovanni B, Silengo, Margherita Cirillo
Izdano 2009

An atypical 7q11.23 deletion in a normal IQ Williams–Beuren syndrome patient

od Ferrero, Giovanni Battista, Howald, Cédric, Micale, Lucia, Biamino, Elisa, Augello, Bartolomeo, Fusco, Carmela, Turturo, Maria Giuseppina, Forzano, Serena, Reymond, Alexandre, Merla, Giuseppe
Izdano 2010

A Restricted Spectrum of Mutations in the SMAD4 Tumor-Suppressor Gene Underlies Myhre Syndrome

od Caputo, Viviana, Cianetti, Luciano, Niceta, Marcello, Carta, Claudio, Ciolfi, Andrea, Bocchinfuso, Gianfranco, Carrani, Eugenio, Dentici, Maria Lisa, Biamino, Elisa, Belligni, Elga, Garavelli, Livia, Boccone, Loredana, Melis, Daniela, Andria, Generoso, Gelb, Bruce D., Stella, Lorenzo, Silengo, Margherita, Dallapiccola, Bruno, Tartaglia, Marco
Izdano 2012

Intrahepatic Administration of Human Liver Stem Cells in Infants with Inherited Neonatal-Onset Hyperammonemia: A Phase I Study

od Spada, Marco, Porta, Francesco, Righi, Dorico, Gazzera, Carlo, Tandoi, Francesco, Ferrero, Ivana, Fagioli, Franca, Sanchez, Maria Beatriz Herrera, Calvo, Pier Luigi, Biamino, Elisa, Bruno, Stefania, Gunetti, Monica, Contursi, Cristina, Lauritano, Carola, Conio, Alessandra, Amoroso, Antonio, Salizzoni, Mauro, Silengo, Lorenzo, Camussi, Giovanni, Romagnoli, Renato
izdano v Stem Cell Rev Rep (2019)

Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein–Taybi syndrome: the interconnections of epigenetic machinery disorders

od Negri, Gloria, Magini, Pamela, Milani, Donatella, Crippa, Milena, Biamino, Elisa, Piccione, Maria, Sotgiu, Stefano, Perrìa, Chiara, Vitiello, Giuseppina, Frontali, Marina, Boni, Antonella, Fede, Elisabetta Di, Gandini, Maria Chiara, Colombo, Elisa Adele, Bamshad, Michael J., Nickerson, Deborah A., Smith, Joshua D., Loddo, Italia, Finelli, Palma, Seri, Marco, Pippucci, Tommaso, Larizza, Lidia, Gervasini, Cristina
izdano v Hum Genet (2019)

Large cryptic genomic rearrangements with apparently normal karyotypes detected by array-CGH

od Di Gregorio, Eleonora, Savin, Elisa, Biamino, Elisa, Belligni, Elga Fabia, Naretto, Valeria Giorgia, D’Alessandro, Gaetana, Gai, Giorgia, Fiocchi, Franco, Calcia, Alessandro, Mancini, Cecilia, Giorgio, Elisa, Cavalieri, Simona, Talarico, Flavia, Pappi, Patrizia, Gandione, Marina, Grosso, Monica, Asnaghi, Valentina, Restagno, Gabriella, Mandrile, Giorgia, Botta, Giovanni, Silengo, Margherita Cirillo, Grosso, Enrico, Ferrero, Giovanni Battista, Brusco, Alfredo
izdano v Mol Cytogenet (2014)

Molecular Analysis, Pathogenic Mechanisms, and Readthrough Therapy on a Large Cohort of Kabuki Syndrome Patients

od Micale, Lucia, Augello, Bartolomeo, Maffeo, Claudia, Selicorni, Angelo, Zucchetti, Federica, Fusco, Carmela, De Nittis, Pasquelena, Pellico, Maria Teresa, Mandriani, Barbara, Fischetto, Rita, Boccone, Loredana, Silengo, Margherita, Biamino, Elisa, Perria, Chiara, Sotgiu, Stefano, Serra, Gigliola, Lapi, Elisabetta, Neri, Marcella, Ferlini, Alessandra, Cavaliere, Maria Luigia, Chiurazzi, Pietro, Monica, Matteo Della, Scarano, Gioacchino, Faravelli, Francesca, Ferrari, Paola, Mazzanti, Laura, Pilotta, Alba, Patricelli, Maria Grazia, Bedeschi, Maria Francesca, Benedicenti, Francesco, Prontera, Paolo, Toschi, Benedetta, Salviati, Leonardo, Melis, Daniela, Di Battista, Eliana, Vancini, Alessandra, Garavelli, Livia, Zelante, Leopoldo, Merla, Giuseppe
izdano v Hum Mutat (2014)