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

gan Tucci, Arianna, Ronzoni, Luisa, Arduino, Carlo, Salmin, Paola, Esposito, Susanna, Milani, Donatella
Cyhoeddwyd yn 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

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

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

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

NT5E Mutations and Arterial Calcifications

gan 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
Cyhoeddwyd 2011