Non-invasive prenatal diagnosis of beta-thalassemia by semiconductor sequencing: a feasibility study in the sardinian population

by Saba, Luisella, Masala, Maddalena, Capponi, Valentina, Marceddu, Giuseppe, Massidda, Matteo, Rosatelli, Maria Cristina
Published in Eur J Hum Genet (2017)

Characterization of a Disease-associated Mutation Affecting a Putative Splicing Regulatory Element in Intron 6b of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Ge...

by Faà, Valeria, Incani, Federica, Meloni, Alessandra, Corda, Denise, Masala, Maddalena, Baffico, A. Maria, Seia, Manuela, Cao, Antonio, Rosatelli, M. Cristina
Published 2009