RAI1 gene mutations: mechanisms of Smith–Magenis syndrome

por Falco, Mariateresa, Amabile, Sonia, Acquaviva, Fabio
Publicado 2017

Detection of SRY‐positive46,XX male syndrome by the analysis of cell‐free fetal DNA via non‐invasive prenatal testing

por De Falco, Luigia, Savarese, Giovanni, Suero, Teresa, Amabile, Sonia, Ruggiero, Raffaella, Savarese, Pasquale, Fico, Antonio
Publicado 2019

Redox Imbalance and Morphological Changes in Skin Fibroblasts in Typical Rett Syndrome

por Signorini, Cinzia, Leoncini, Silvia, De Felice, Claudio, Pecorelli, Alessandra, Meloni, Ilaria, Ariani, Francesca, Mari, Francesca, Amabile, Sonia, Paccagnini, Eugenio, Gentile, Mariangela, Belmonte, Giuseppe, Zollo, Gloria, Valacchi, Giuseppe, Durand, Thierry, Galano, Jean-Marie, Ciccoli, Lucia, Renieri, Alessandra, Hayek, Joussef
Publicado 2014

Whole-Exome Sequencing Revealed New Candidate Genes for Human Dilated Cardiomyopathy

por D’Agostino, Ylenia, Palumbo, Domenico, Rusciano, Maria Rosaria, Strianese, Oriana, Amabile, Sonia, Di Rosa, Domenico, De Angelis, Elena, Visco, Valeria, Russo, Fabio, Alexandrova, Elena, Salvati, Annamaria, Giurato, Giorgio, Nassa, Giovanni, Tarallo, Roberta, Galasso, Gennaro, Ciccarelli, Michele, Weisz, Alessandro, Rizzo, Francesca
Publicado 2022