1. MO059COLEC10 AND 3MC SYNDROME: EXPANDING THE GENOTYPIC AND PHENOTYPIC SPECTRUM OF A VERY RARE DISEASE. (29th May 2021) Authors: Migliorero, Martina; Kalantari, Silvia; Bracciamà, Valeria; Sorbini, Monica; Arruga, Francesca; Peruzzi, Licia; Biamino, Elisa; Amoroso, Antonio; Vaisitti, Tiziana; Deaglio, Silvia Journal: Nephrology dialysis transplantation Issue: Volume 36(2021)Supplement 1 Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. P0051NOVEL AND KNOWN MUTATIONS IDENTIFIED BY CLINICAL EXOME SEQUENCING FOR THE DIAGNOSIS OF POLYCYSTIC KIDNEY DISEASE. (6th June 2020) Authors: Vaisitti, Tiziana; Sorbini, Monica; Callegari, Martina; Kalantari, Silvia; Bracciamà, Valeria; Arruga, Francesca; Vanzino, Silvia Bruna; Pelle, Alessandra; Giachino, Daniela; Cocchi, Enrico; Baldovino, Simone; Rollino, Cristiana; Fenoglio, Roberta; Tamagnone, Michela; Gherzi, Maurizio; Soragna, G... Journal: Nephrology dialysis transplantation Issue: Volume 35(2020)Supplement 3 Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. P0056USE OF CLINICAL EXOME SEQUENCING IN THE DIAGNOSTIC FLOW OF MONOGENIC KIDNEY DISEASES: THE PIEDMONT EXPERIENCE. (6th June 2020) Authors: Vaisitti, Tiziana; Sorbini, Monica; Callegari, Martina; Kalantari, Silvia; Bracciamà, Valeria; Arruga, Francesca; Vanzino, Silvia Bruna; Pelle, Alessandra; Giachino, Daniela; Cocchi, Enrico; Baldovino, Simone; Rollino, Cristiana; Fenoglio, Roberta; Peruzzi, Licia; Roccatello, Dario; Amoroso, Anto... Journal: Nephrology dialysis transplantation Issue: Volume 35(2020)Supplement 3 Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗