Diagnosis of congenital CMV infection via DBS samples testing and neonatal hearing screening: an observational study in Italy

by Laura Pellegrinelli, Cristina Galli, Valeria Primache, Mirko Alde’, Enrico Fagnani, Federica Di Berardino, Diego Zanetti, Elena Pariani, Umberto Ambrosetti, Sandro Binda
Published 2019-07-01

SLC22A4 Gene in Hereditary Non-syndromic Hearing Loss: Recurrence and Incomplete Penetrance of the p.C113Y Mutation in Northwest Africa

by Chiara Chiereghin, Michela Robusto, Lucia Mauri, Paola Primignani, Pierangela Castorina, Umberto Ambrosetti, Stefano Duga, Stefano Duga, Rosanna Asselta, Rosanna Asselta, Giulia Soldà, Giulia Soldà
Published 2021-02-01

Lights and Shadows in the Genetics of Syndromic and Non-Syndromic Hearing Loss in the Italian Population

by Anna Morgan, Stefania Lenarduzzi, Beatrice Spedicati, Elisabetta Cattaruzzi, Flora Maria Murru, Giulia Pelliccione, Daniela Mazzà, Marcella Zollino, Claudio Graziano, Umberto Ambrosetti, Marco Seri, Flavio Faletra, Giorgia Girotto
Published 2020-10-01

Genomic Studies in a Large Cohort of Hearing Impaired Italian Patients Revealed Several New Alleles, a Rare Case of Uniparental Disomy (UPD) and the Importance to Search for Copy N...

by Anna Morgan, Stefania Lenarduzzi, Stefania Cappellani, Vanna Pecile, Marcello Morgutti, Eva Orzan, Sara Ghiselli, Umberto Ambrosetti, Marco Brumat, Poornima Gajendrarao, Martina La Bianca, Flavio Faletra, Enrico Grosso, Fabio Sirchia, Alberto Sensi, Claudio Graziano, Marco Seri, Paolo Gasparini, Paolo Gasparini, Giorgia Girotto, Giorgia Girotto
Published 2018-12-01