Rizza, Roberta

Rizza, Roberta  

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1-gen-2020 A novel MEN1 pathogenic variant in an Italian patient with multiple endocrine neoplasia type 1 Corsello, A.; Bruno, C.; Rizza, R.; Concolino, P.; Papi, G.; Pontecorvi, A.; Rindi, G.; Paragliola, R. M.
1-gen-2020 Spectrum of germline BRCA1 and BRCA2 variants identified in 2351 ovarian and breast cancer patients referring to a reference cancer hospital of Rome Santonocito, C.; Rizza, R.; Paris, I.; De Marchis, L.; Paolillo, C.; Tiberi, G.; Scambia, G.; Capoluongo, E.
1-gen-2019 Novel BRCA1 Large Genomic Rearrangements in Italian Breast/Ovarian Cancer Patients Rizza, R; Hackmann, K; Paris, I; Minucci, A; De Leo, R; Schrock, E; Urbani, A; Capoluongo, E; Gelli, G; Concolino, P
1-gen-2017 Characterization of a new BRCA1 rearrangement in an Italian woman with hereditary breast and ovarian cancer syndrome Concolino, P; Rizza, R; Hackmann, K; Paris, I; Minucci, A; De Paolis, E; Scambia, G; Zuppi, C; Schrock, E; Capoluongo, E.
1-gen-2017 Competitive PCR-High Resolution Melting Analysis (C-PCR-HRMA) for large genomic rearrangements (LGRs) detection: A new approach to assess quantitative status of BRCA1 gene in a reference laboratory Minucci, A; De Paolis, E; Concolino, P; De Bonis, M; Rizza, R; Canu, G; Scaglione, Gl; Mignone, F; Scambia, G; Zuppi, C; Capoluongo, E.
1-gen-2017 CYP21A2 intronic variants causing 21-hydroxylase deficiency Concolino, P; Rizza, R; Costella, A; Carrozza, C; Zuppi, C; Capoluongo, E.
1-gen-2017 Identification and Characterization of a New BRCA2 Rearrangement in an Italian Family with Hereditary Breast and Ovarian Cancer Syndrome Concolino, P; Rizza, R; Hackmann, K; Minucci, A; Scaglione, Gl; De Bonis, M; Costella, A; Zuppi, C; Schrock, E; Capoluongo, E.
1-gen-2015 Incidental Finding of a Homozygous p.M348K Asymptomatic Italian Patient Confirms the Many Faces of Cystic Fibrosis Molinario, Rossana; Palumbo, Sara; Concolino, Paola; Rocchetti, Sandro; Rizza, Roberta; Scaglione, Giovanni Luca; Minucci, Angelo; Capoluongo, Ettore Domenico