Uncovering a Genetic Diagnosis in a Pediatric Patient by Whole Exome Sequencing: A Modeling Investigation in Wiedemann–Steiner Syndrome
di Bari, Ighli, Ceccarini, Caterina, Curcetti, Maria, Cesarano, Carla, Croce, Anna-Irma, Adipietro, Iolanda, Gallicchio, Maria Grazia, Palladino, Grazia Pia, Patrizio, Maria Pia, Frisoli, Benedetta, Santacroce, Rosa, D’Apolito, Maria, D’Andrea, Giovanna, Castriota, Ombretta Michela, Pierri, Ciro Leonardo, Margaglione, Maurizio
Published in Genes (01.09.2024)
Published in Genes (01.09.2024)
Get full text
Journal Article
Characterization of the first adult de novo case of 46,X,der(Y)t(X;Y)(p22.3;q11.2)
Bukvic, Nenad, Cesarano, Carla, Ceccarini, Caterina, Bruno, Marianna, Lipsi, Maria Rosaria, Gallicchio, Maria Grazia, Carboni, Maria Assunta, Valente, Lucia, Cotoia, Giulia, Antonetti, Raffaele
Published in Gene (15.01.2013)
Published in Gene (15.01.2013)
Get full text
Journal Article