Perrucci, Alessia
Perrucci, Alessia
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The novel CFTR haplotype E583G/F508del in CFTR-related disorder
2024 De Paolis, Elisa; Tilocca, Bruno; Inchingolo, Riccardo; Lombardi, Carla; Perrucci, Alessia; Maneri, Giulia; Roncada, Paola; Varone, Francesco; Richeldi, Luca; Urbani, Andrea; Minucci, Angelo; Santonocito, Concetta
Genetic Characterization of a Cohort of Italian Patients with Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency
2023 Concolinopaola, ; Perrucci, Alessia; Carrozza, Cinzia; Urbani, Andrea
BRCA testing on buccal swab to improve access to healthcare and cancer prevention: A performance evaluation
2022 De Paolis, Elisa; Perrucci, Alessia; Marchetti, Claudia; Pietragalla, A.; Scambia, Giovanni; Urbani, Andrea; Fagotti, Anna; Minucci, Angelo
A novel low-density lipoprotein receptor variant in a Ukrainian patient: a case report and overview of the disease-causing low-density lipoprotein receptor variants associated to familial hypercholesterolemia
2021 Moffa, Simona; Onori, Maria Elisabetta; De Paolis, Elisa; Ricciardi Tenore, Claudio; Perrucci, Alessia; Pontecorvi, Alfredo; Giaccari, Andrea; Urbani, Andrea; Minucci, Angelo
| Data di pubblicazione | Titolo | Autore(i) | File |
|---|---|---|---|
| 1-gen-2024 | The novel CFTR haplotype E583G/F508del in CFTR-related disorder | De Paolis, Elisa; Tilocca, Bruno; Inchingolo, Riccardo; Lombardi, Carla; Perrucci, Alessia; Maneri, Giulia; Roncada, Paola; Varone, Francesco; Richeldi, Luca; Urbani, Andrea; Minucci, Angelo; Santonocito, Concetta | |
| 1-gen-2023 | Genetic Characterization of a Cohort of Italian Patients with Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency | Concolinopaola, ; Perrucci, Alessia; Carrozza, Cinzia; Urbani, Andrea | |
| 1-gen-2022 | BRCA testing on buccal swab to improve access to healthcare and cancer prevention: A performance evaluation | De Paolis, Elisa; Perrucci, Alessia; Marchetti, Claudia; Pietragalla, A.; Scambia, Giovanni; Urbani, Andrea; Fagotti, Anna; Minucci, Angelo | |
| 1-gen-2021 | A novel low-density lipoprotein receptor variant in a Ukrainian patient: a case report and overview of the disease-causing low-density lipoprotein receptor variants associated to familial hypercholesterolemia | Moffa, Simona; Onori, Maria Elisabetta; De Paolis, Elisa; Ricciardi Tenore, Claudio; Perrucci, Alessia; Pontecorvi, Alfredo; Giaccari, Andrea; Urbani, Andrea; Minucci, Angelo |