CESCA, FEDERICA

CESCA, FEDERICA  

Dipartimento di Salute della Donna e del Bambino - SDB  

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Risultati 1 - 8 di 8 (tempo di esecuzione: 0.014 secondi).
Titolo Data di pubblicazione Autori Rivista Serie Titolo libro
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, FEDERICABETTELLA, ELISAPOLLI, ROBERTACAMA, ELONASCIMEMI, PIETROSANTARELLI, ROSAMARIAMURGIA, ALESSANDRA INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY - -
Characterization of intellectual disability and autism comorbidity through gene panel sequencing 2019 Aspromonte M. C.BELLINI, MARIAGRAZIAGasparini A.Carraro M.Bettella E.Polli R.Cesca F.MILANI, DUCCIOSartori S.Toldo I.MARINO BUSLJE, CRISTINA ESTERTosatto S. C. E.Murgia A.Leonardi E. + HUMAN MUTATION - -
Effective Diagnosis of Neurodevelopmental Disorders (NDDs) by Computational Analysis and Next Generation Sequencing 2018 Maria Cristina AspromonteAlessandra GaspariniRoberta PolliElisa BettellaFederica CescaMarco CarraroStefano SartoriSilvio C. E. TosattoAlessandra MurgiaEmanuela Leonardi - - Effective Diagnosis of Neurodevelopmental Disorders (NDDs) by Computational Analysis and Next Generation Sequencing
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.Cama E.Scimemi P.Santarelli R.Murgia A. + JOURNAL OF HUMAN GENETICS - -
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 M. C. AspromonteAlessandra GaspariniRoberta PolliElisa BettellaFederica CescaM. BelliniStefano SartoriM. CarraroS. C. E. TosattoA. MurgiaE. Leonardi + - - High incidence of SHANK3 loss of function mutations in individuals with intellectual disability and autistic traits
TARGETED GENE PANEL FOR COMORBID NEUROLOGICAL DISORDERS 2016 Maria Cristina AspromonteAlessandra GaspariniMarco CarraroElisa BettellaRoberta PolliFederica CescaStefano SartoriIrene ToldoSilvio C. E. TosattoAlessandra MurgiaEmanuela Leonardi + - - TARGETED GENE PANEL FOR COMORBID NEUROLOGICAL DISORDERS
TRIO variants in individuals with variable intellectual deficits 2017 Maria Cristina AspromonteAlessandra GaspariniRoberta PolliElisa BettellaFederica CescaStefano SartoriMarco CarraroSilvio C. E. TosattoAlessandra MurgiaEmanuela Leonardi + - - TRIO variants in individuals with variable intellectual deficits