Search Results - "Baffico, A Maria"

Characterization of a Disease-associated Mutation Affecting a Putative Splicing Regulatory Element in Intron 6b of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Gene by Faà, Valeria, Incani, Federica, Meloni, Alessandra, Corda, Denise, Masala, Maddalena, Baffico, A.Maria, Seia, Manuela, Cao, Antonio, Rosatelli, M.Cristina

“…Cystic fibrosis (CF) is a common recessive disorder caused by >1600 mutations in the CF transmembrane conductance regulator (CFTR) gene. About 13% of CFTR…”
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Novel c.358C>T mutation of SOX9 gene in prenatal diagnosis of campomelic dysplasia by Barone, Chiara, Bartoloni, Giovanni, Baffico, A. Maria, Pappalardo, Elisa, Mura, Isabella, Ettore, Giuseppe, Bianca, Sebastiano

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Novel c.358C>T mutation of SOX9 gene in prenatal diagnosis of campomelic dysplasia by Barone, Chiara, Bartoloni, Giovanni, Baffico, A Maria, Pappalardo, Elisa, Mura, Isabella, Ettore, Giuseppe, Bianca, Sebastiano

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Novel c.358 C > T mutation of SOX 9 gene in prenatal diagnosis of campomelic dysplasia by Barone, Chiara, Bartoloni, Giovanni, Baffico, A. Maria, Pappalardo, Elisa, Mura, Isabella, Ettore, Giuseppe, Bianca, Sebastiano

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