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

由 Tucci, Arianna, Ronzoni, Luisa, Arduino, Carlo, Salmin, Paola, Esposito, Susanna, Milani, Donatella
發表在 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

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

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

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

NT5E Mutations and Arterial Calcifications

由 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
出版 2011