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

di Tucci, Arianna, Ronzoni, Luisa, Arduino, Carlo, Salmin, Paola, Esposito, Susanna, Milani, Donatella
Pubblicato in 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

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

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

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

NT5E Mutations and Arterial Calcifications

di 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
Pubblicazione 2011