RUBINATO, ELISA
RUBINATO, ELISA
Dipartimento Universitario Clinico di Scienze mediche, chirurgiche e della salute
Challenging Occam's Razor: Dual Molecular Diagnoses Explain Entangled Clinical Pictures
2022-01-01 Spedicati, Beatrice; Morgan, Anna; Pianigiani, Giulia; Musante, Luciana; Rubinato, Elisa; Santin, Aurora; Nardone, Giuseppe Giovanni; Faletra, Flavio; Girotto, Giorgia
Genetic Evaluation of Prelingual Hearing Impairment: Recommendations of an European Network for Genetic Hearing Impairment
2023-01-01 Jonard, Laurence; Brotto, Davide; Moreno-Pelayo, Miguel A.; del Castillo, Ignacio; Kremer, Hannie; Pennings, Ronald; Caria, Helena; Fialho, Graça; Boudewyns, An; Van Camp, Guy; Ołdak, Monika; Oziębło, Dominika; Deggouj, Naïma; De Siati, Romolo Daniele; Gasparini, Paolo; Girotto, Giorgia; Verstreken, Margriet; Dossena, Silvia; Roesch, Sebastian; Battelino, Saba; Trebušak Podkrajšek, Katarina; Warnecke, Athanasia; Lenarz, Thomas; Lesinski-Schiedat, Anke; Mondain, Michel; Roux, Anne-Françoise; Denoyelle, Françoise; Loundon, Natalie; Serey Gaut, Margaux; Trevisi, Patrizia; Rubinato, Elisa; Martini, Alessandro; Marlin, Sandrine
New insights on Noonan syndrome's clinical phenotype: a single center retrospective study
2022-01-01 Baldo, Francesco; Fachin, Alice; Da Re, Beatrice; Rubinato, Elisa; Bobbo, Marco; Barbi, Egidio
Next-generation sequencing identified SPATC1L as a possible candidate gene for both early-onset and age-related hearing loss
2019-01-01 Morgan, Anna; Vuckovic, Dragana; Krishnamoorthy, Navaneethakrishnan; Rubinato, Elisa; Ambrosetti, Umberto; Castorina, Pierangela; Franzè, Annamaria; Vozzi, Diego; La Bianca, Martina; Cappellani, Stefania; Di Stazio, Mariateresa; Gasparini, Paolo; Girotto, Giorgia
Pendred syndrome, or not pendred syndrome? That is the question
2021-01-01 Tesolin, P.; Fiorino, S.; Lenarduzzi, S.; Rubinato, E.; Cattaruzzi, E.; Ammar, L.; Castro, V.; Orzan, E.; Granata, C.; Dell'Orco, D.; Morgan, A.; Girotto, G.
PSIP1/LEDGF: A new gene likely involved in sensorineural progressive hearing loss
2015-01-01 Girotto, Giorgia; Scheffer, Déborah I.; Morgan, Anna; Vozzi, Diego; Rubinato, Elisa; DI STAZIO, Mariateresa; Muzzi, Enrico; Pensiero, Stefano; Giersch, Anne B.; Corey, David P.; Gasparini, Paolo
TBL1Y: a new gene involved in syndromic hearing loss
2019-01-01 DI STAZIO, Mariateresa; Collesi, Chiara; Vozzi, Diego; Liu, Wei; Myers, Mike; Morgan, Anna; D'Adamo, ADAMO PIO; Girotto, Giorgia; Rubinato, Elisa; Giacca, Mauro; Gasparini, Paolo
The Enigmatic Genetic Landscape of Hereditary Hearing Loss: A Multistep Diagnostic Strategy in the Italian Population
2023-01-01 Spedicati, Beatrice; Santin, Aurora; Nardone, Giuseppe Giovanni; Rubinato, Elisa; Lenarduzzi, Stefania; Graziano, Claudio; Garavelli, Livia; Miccoli, Sara; Bigoni, Stefania; Morgan, Anna; Girotto, Giorgia
Usher syndrome: An effective sequencing approach to establish a genetic and clinical diagnosis
2015-01-01 Lenarduzzi, Stefania; Vozzi, Diego; Morgan, Anna; Rubinato, Elisa; D'Eustacchio, A.; Osland, TERESA MARIA; Rossi, C.; Graziano, C.; Castorina, P.; Ambrosetti, U.; Morgutti, Marcello; Girotto, Giorgia
Which Came First? When Usher Syndrome Type 1 Couples with Neuropsychiatric Disorders
2023-01-01 Tesolin, Paola; Santin, Aurora; Morgan, Anna; Lenarduzzi, Stefania; Rubinato, Elisa; Girotto, Giorgia; Spedicati, Beatrice