CESCA, FEDERICA

CESCA, FEDERICA  

Dipartimento di Salute della Donna e del Bambino - SDB  

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Titolo Data di pubblicazione Autori Rivista Serie Titolo libro
CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods 2024 Piero FariselliManuel GiolloSilvio C E TosattoFederica LovisaElisa BettellaFederica CescaRoberta PolliStefano SartoriIrene ToldoMaria C AspromonteEmanuela LeonardiAlessandra MurgiaRui ChenGiovanni MinerviniAlexander M Monzon + GENOME BIOLOGY - -
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 - -
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 - -
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 - -