CESCA, FEDERICA
CESCA, FEDERICA
Dipartimento di Salute della Donna e del Bambino - SDB
A novel mutation of the EYA4 gene associated with post-lingual hearing loss in a proband is co-segregating with a novel PAX3 mutation in two congenitally deaf family members
2018 Cesca, Federica; Bettella, Elisa; Polli, Roberta; Cama, Elona; Scimemi, Pietro; Santarelli, Rosamaria; Murgia, Alessandra
Characterization of intellectual disability and autism comorbidity through gene panel sequencing
2019 Aspromonte, M. C.; Bellini, Mariagrazia; Gasparini, A.; Carraro, M.; Bettella, E.; Polli, R.; Cesca, F.; Bigoni, S.; Boni, S.; Carlet, O.; Negrin, S.; Mammi, I.; Milani, Duccio; Peron, A.; Sartori, S.; Toldo, I.; Soli, F.; Turolla, L.; Stanzial, F.; Benedicenti, F.; MARINO BUSLJE, CRISTINA ESTER; Tosatto, S. C. E.; Murgia, A.; Leonardi, E.
Effective Diagnosis of Neurodevelopmental Disorders (NDDs) by Computational Analysis and Next Generation Sequencing
2018 Aspromonte, MARIA CRISTINA; Gasparini, Alessandra; Polli, Roberta; Bettella, Elisa; Cesca, Federica; Carraro, Marco; Sartori, Stefano; Tosatto, Silvio C. E.; Murgia, Alessandra; Leonardi, Emanuela
Frequency of Usher gene mutations in non-syndromic hearing loss: higher variability of the Usher phenotype
2020 Cesca, F.; Bettella, E.; Polli, R.; Leonardi, E.; Aspromonte, M. C.; Sicilian, B.; Stanzial, F.; Benedicenti, F.; Sensi, A.; Ciorba, A.; Bigoni, S.; Cama, E.; Scimemi, P.; Santarelli, R.; Murgia, A.
Hereditary Hearing Loss: From Molecular Bases To Phenotypic Caractherization
2017 Cesca, Federica
High incidence of SHANK3 loss of function mutations in individuals with intellectual disability and autistic traits
2018 Aspromonte, M. C.; Gasparini, Alessandra; Polli, Roberta; Bettella, Elisa; Cesca, Federica; Bellini, M.; Benedicenti, Francesco; Boni, Stefania; Carlet, Ombretta; Rivieri, F.; Vittorini, R.; Sartori, Stefano; Carraro, M.; Tosatto, S. C. E.; Murgia, A.; Leonardi, E.
TARGETED GENE PANEL FOR COMORBID NEUROLOGICAL DISORDERS
2016 Aspromonte, MARIA CRISTINA; Gasparini, Alessandra; Carraro, Marco; Bettella, Elisa; Polli, Roberta; Cesca, Federica; Sartori, Stefano; Toldo, Irene; Bigoni, Stefania; Peron, Angela; Stanzial, Franco; Tosatto, Silvio C. E.; Murgia, Alessandra; Leonardi, Emanuela
TRIO variants in individuals with variable intellectual deficits
2017 Aspromonte, MARIA CRISTINA; Gasparini, Alessandra; Polli, Roberta; Bettella, Elisa; Cesca, Federica; Sartori, Stefano; Bigoni, Stefania; Mammi, Isabella; Carraro, Marco; Tosatto, Silvio C. E.; Murgia, Alessandra; Leonardi, Emanuela