The p.Phe174Ser mutation is associated with mild forms of Smith Lemli Opitz Syndrome

por Tucci, Arianna, Ronzoni, Luisa, Arduino, Carlo, Salmin, Paola, Esposito, Susanna, Milani, Donatella
Publicado en BMC Med Genet (2016)

An Enhanced Polymerase Chain Reaction Assay to Detect Pre- and Full Mutation Alleles of the Fragile X Mental Retardation 1 Gene

por Saluto, Alessandro, Brussino, Alessandro, Tassone, Flora, Arduino, Carlo, Cagnoli, Claudia, Pappi, Patrizia, Hagerman, Paul, Migone, Nicola, Brusco, Alfredo
Publicado 2005

Somatic Variant Analysis Identifies Targets for Tailored Therapies in Patients with Vascular Malformations

por Paolacci, Stefano, Mattassi, Raul Ettore, Marceddu, Giuseppe, Manara, Elena, Zulian, Alessandra, Guerri, Giulia, De Antoni, Luca, Arduino, Carlo, Cavalca, Daniela, Bertelli, Matteo
Publicado en J Clin Med (2020)

NT5E Mutations and Arterial Calcifications

por St. Hilaire, Cynthia, Ziegler, Shira G., Markello, Thomas C., Brusco, Alfredo, Groden, Catherine, Gill, Fred, Carlson-Donohoe, Hannah, Lederman, Robert J., Chen, Marcus Y., Yang, Dan, Siegenthaler, Michael P., Arduino, Carlo, Mancini, Cecilia, Freudenthal, Bernard, Stanescu, Horia C., Zdebik, Anselm A., Chaganti, R. Krishna, Nussbaum, Robert L., Kleta, Robert, Gahl, William A., Boehm, Manfred
Publicado 2011