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Author/Creator Franzè, Annamaria

1. Bimodal strategy for excellent audiological rehabilitation in a subject with a novel nonsense mutation of the SLC26A4 gene: A case report. (July 2020)

Authors:
Malesci, Rita; Russo, Roberta; Monzillo, Carmela; Laria, Carla; Corvino, Virginia; Auletta, Gennaro; Iolascon, Achille; Franzè, Annamaria
Journal:
International journal of pediatric otorhinolaryngology
Issue:
Volume 134(2020:Jul.)
Page Start:
Record Type:
Journal Article
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2. Genetic characterization of Italian patients with Bardet-Biedl syndrome and correlation to ocular, renal and audio-vestibular phenotype: identification of eleven novel pathogenic sequence variants. Issue 1 (December 2017)

Authors:
Esposito, Gabriella; Testa, Francesco; Zacchia, Miriam; Crispo, Anna; Di Iorio, Valentina; Capolongo, Giovanna; Rinaldi, Luca; D'Antonio, Marcella; Fioretti, Tiziana; Iadicicco, Pasquale; Rossi, Settimio; Franzè, Annamaria; Marciano, Elio; Capasso, Giovanbattista; Simonelli, Francesca; Salvatore,...
Journal:
BMC medical genetics
Issue:
Volume 18:Issue 1(2017)
Page Start:
1
Record Type:
Journal Article
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3. Next-generation sequencing identified SPATC1L as a possible candidate gene for both early-onset and age-related hearing loss. (January 2019)

Authors:
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
Journal:
European journal of human genetics
Issue:
Volume 27:Number 1(2019)
Page Start:
70
Record Type:
Journal Article
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