Hypomorphic mutations of SEC23B gene account for mild phenotypes of congenital dyserythropoietic anemia type II

por Russo, Roberta, Langella, Concetta, Esposito, Maria Rosaria, Gambale, Antonella, Vitiello, Francesco, Vallefuoco, Fara, Ek, Torben, Yang, Elizabeth, Iolascon, Achille
Publicado 2013

New insights in the interpretation of array-CGH: autism spectrum disorder and positive family history for intellectual disability predict the detection of pathogenic variants

por Cappuccio, Gerarda, Vitiello, Francesco, Casertano, Alberto, Fontana, Paolo, Genesio, Rita, Bruzzese, Dario, Ginocchio, Virginia Maria, Mormile, Angela, Nitsch, Lucio, Andria, Generoso, Melis, Daniela
Publicado 2016