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

od Saba, Luisella, Masala, Maddalena, Capponi, Valentina, Marceddu, Giuseppe, Massidda, Matteo, Rosatelli, Maria Cristina
Wydane w 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...

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