2. Post-Natal Molecular Diagnosis of Inherited Diseases

di Ferrari, Maurizio, Cremonesi, Laura, Stenirri, Stefania
Pubblicato in EJIFCC (2008)

Evaluation of human gene variant detection in amplicon pools by the GS-FLX parallel Pyrosequencer

di Bordoni, Roberta, Bonnal, Raoul, Rizzi, Ermanno, Carrera, Paola, Benedetti, Sara, Cremonesi, Laura, Stenirri, Stefania, Colombo, Alessio, Montrasio, Cristina, Bonalumi, Sara, Albertini, Alberto, Bernardi, Luigi Rossi, Ferrari, Maurizio, De Bellis, Gianluca
Pubblicazione 2008

Deciphering Variability of PKD1 and PKD2 in an Italian Cohort of 643 Patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD)

di Carrera, Paola, Calzavara, Silvia, Magistroni, Riccardo, den Dunnen, Johan T., Rigo, Francesca, Stenirri, Stefania, Testa, Francesca, Messa, Piergiorgio, Cerutti, Roberta, Scolari, Francesco, Izzi, Claudia, Edefonti, Alberto, Negrisolo, Susanna, Benetti, Elisa, Alibrandi, Maria Teresa Sciarrone, Manunta, Paolo, Boletta, Alessandra, Ferrari, Maurizio
Pubblicato in Sci Rep (2016)