AMBROSINI, ENRICO
AMBROSINI, ENRICO
Familial DMRT1-related non-obstructive azoospermia: a case report
2024 Severi, Giulia; Ambrosini, Enrico; Caramanna, Luca; Monti, Luigi; Magini, Pamela; Innella, Giovanni
Genetic Basis of Breast and Ovarian Cancer: Approaches and Lessons Learnt from Three Decades of Inherited Predisposition Testing
2024 Barili, Valeria; Ambrosini, Enrico; Bortesi, Beatrice; Minari, Roberta; De Sensi, Erika; Cannizzaro, Ilenia Rita; Taiani, Antonietta; Michiara, Maria; Sikokis, Angelica; Boggiani, Daniela; Tommasi, Chiara; Serra, Olga; Bonatti, Francesco; Adorni, Alessia; Luberto, Anita; Caggiati, Patrizia; Martorana, Davide; Uliana, Vera; Percesepe, Antonio; Musolino, Antonino; Pellegrino, Benedetta
Reassessment of the NF1 variants of unknown significance found during the 20-year activity of a genetics diagnostic laboratory
2023 Martorana, Davide; Barili, Valeria; Uliana, Vera; Ambrosini, Enrico; Riva, Matteo; De Sensi, Erika; Luppi, Elena; Messina, Corinne; Caleffi, Edoardo; Pisani, Francesco; Percesepe, Antonio
Deletion of 4q13.2q21.1 chromosome and autism spectrum disorder
2022 Posar, A.; Visconti, P.; Magini, P.; Ambrosini, E.; Severi, G.; Seri, M.
Epilepsy with eyelid myoclonias and Sotos syndrome features in a patient with compound heterozygous missense variants in APC2 gene
2020 Mastrangelo V.; Minardi R.; Baroni M.C.; Severi G.; Ambrosini E.; Toni F.; Alvisi L.; Licchetta L.; Bisulli F.; Tinuper P.; Mostacci B.
Gene Panel Analysis in a Large Cohort of Patients With Autosomal Dominant Polycystic Kidney Disease Allows the Identification of 80 Potentially Causative Novel Variants and the Characterization of a Complex Genetic Architecture in a Subset of Families
2020 Mantovani V.; Bin S.; Graziano C.; Capelli I.; Minardi R.; Aiello V.; Ambrosini E.; Cristalli C.P.; Mattiaccio A.; Pariali M.; De Fanti S.; Faletra F.; Grosso E.; Cantone R.; Mancini E.; Mencarelli F.; Pasini A.; Wischmeijer A.; Sciascia N.; Seri M.; La Manna G.