Genes and Pseudogenes: Complexity of the RCCX Locus and Disease

por Carrozza, Cinzia, Foca, Laura, De Paolis, Elisa, Concolino, Paola
Publicado 2021

Prevalence of CAH-X Syndrome in Italian Patients with Congenital Adrenal Hyperplasia (CAH) Due to 21-Hydroxylase Deficiency

por Paragliola, Rosa Maria, Perrucci, Alessia, Foca, Laura, Urbani, Andrea, Concolino, Paola
Publicado 2022

A Novel ATM Pathogenic Variant in an Italian Woman with Gallbladder Cancer

por De Paolis, Elisa, Urbani, Andrea, Salvatore, Lisa, Foca, Laura, Tortora, Giampaolo, Minucci, Angelo, Concolino, Paola
Publicado 2021

Assessing the pathogenicity of BRCA1/2 variants of unknown significance: Relevance and challenges for breast cancer precision medicine

por De Paolis, Elisa, Paris, Ida, Tilocca, Bruno, Roncada, Paola, Foca, Laura, Tiberi, Giordana, D’Angelo, Tatiana, Pavese, Francesco, Muratore, Margherita, Carbognin, Luisa, Garganese, Giorgia, Masetti, Riccardo, Di Leone, Alba, Fabi, Alessandra, Scambia, Giovanni, Urbani, Andrea, Generali, Daniele, Minucci, Angelo, Santonocito, Concetta
Publicado 2023