BELLINI, MARIAGRAZIA

BELLINI, MARIAGRAZIA  

Dipartimento di Salute della Donna e del Bambino - SDB  

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Titolo Data di pubblicazione Autori Rivista Serie Titolo libro
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
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 - -
Assessment of patient clinical descriptions and pathogenic variants from gene panel sequences in the CAGI-5 intellectual disability challenge 2019 Carraro M.Monzon A. M.CHIRICOSTA, LUIGIREGGIANI, FRANCESCOAspromonte M. C.Bellini M.Ferrari C.Murgia A.Tosatto S. C. E.Leonardi E. + HUMAN MUTATION - -
A Novel WAC Loss of Function Mutation in an Individual Presenting with Encephalopathy Related to Status Epilepticus during Sleep (ESES) 2020 Leonardi E.Bellini M.Aspromonte M. C.Polli R.Bettella E.Cainelli E.Sartori S.Boniver C.Murgia A. + GENES - -