Is there any clinical relevant difference between non mosaic Klinefelter Syndrome patients with or without Androgen Receptor variations?

by Umberto Valente, Cinzia Vinanzi, Savina Dipresa, Riccardo Selice, Massimo Menegazzo, Massimo Iafrate, Carlo Foresta, Andrea Garolla
Published 2017-06-01

Comparison of NGS panel and Sanger sequencing for genotyping CAG repeats in the AR gene

by Maria Santa Rocca, Margherita Ferrarini, Aichi Msaki, Cinzia Vinanzi, Marco Ghezzi, Maurizio De Rocco Ponce, Carlo Foresta, Alberto Ferlin
Published 2020-06-01

A novel genetic variant in DNAI2 detected by custom gene panel in a newborn with Primary Ciliary Dyskinesia: case report

by Maria Santa Rocca, Gioia Piatti, Angela Michelucci, Raffaella Guazzo, Veronica Bertini, Cinzia Vinanzi, Maria Adelaide Caligo, Angelo Valetto, Carlo Foresta
Published 2020-11-01