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

por Valente, Umberto, Vinanzi, Cinzia, Dipresa, Savina, Selice, Riccardo, Menegazzo, Massimo, Iafrate, Massimo, Foresta, Carlo, Garolla, Andrea
Publicado 2017

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

por Rocca, Maria Santa, Ferrarini, Margherita, Msaki, Aichi, Vinanzi, Cinzia, Ghezzi, Marco, De Rocco Ponce, Maurizio, Foresta, Carlo, Ferlin, Alberto
Publicado 2020

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

por Rocca, Maria Santa, Piatti, Gioia, Michelucci, Angela, Guazzo, Raffaella, Bertini, Veronica, Vinanzi, Cinzia, Caligo, Maria Adelaide, Valetto, Angelo, Foresta, Carlo
Publicado 2020