Sfoglia per Autore

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Mostrati risultati da 1 a 16 di 16
Titolo Data di pubblicazione Autore(i) Rivista Serie Titolo libro
DisProt in 2022: improved quality and accessibility of protein intrinsic disorder annotation 2022 Quaglia, FedericaSalladini, EdoardoHatos, AndrásPajkos, MátyásAspromonte, Maria CristinaBassot, ClaudioChasapi, AnastasiaDavey, Norman EDobson, LaszloElofsson, ArneGlavina, JulianaIserte, JavierLambrughi, MatteoLeonardi, EmanuelaLonghi, SoniaMaiani, EmilianoMarchetti, JuliaMonzon, Alexander MiguelMinervini, GiovanniNilsson, Juliet FPalopoli, NicolásPapaleo, ElenaVeljkovic, NevenaParisi, GustavoTosatto, Silvio C EPiovesan, Damiano + NUCLEIC ACIDS RESEARCH - -
Identification of SETBP1 Mutations by Gene Panel Sequencing in Individuals With Intellectual Disability or With “Developmental and Epileptic Encephalopathy” 2020 Emanuela LeonardiElisa BettellaMaria Federica PelizzaMaria Cristina AspromonteRoberta PolliClementina BoniverStefano SartoriAlessandra Murgia + FRONTIERS IN NEUROLOGY - -
Identification of SETBP1 Mutations by Gene Panel Sequencing in Individuals With Intellectual Disability or With “Developmental and Epileptic Encephalopathy” 2020 Leonardi E.Bettella E.Aspromonte M. C.Polli R.Sartori S.Murgia A. + FRONTIERS IN NEUROLOGY - -
A Novel WAC Loss of Function Mutation in an Individual Presenting with Encephalopathy Related to Status Epilepticus during Sleep (ESES) 2020 Leonardi E.Aspromonte M. C.Polli R.Bettella E.Cainelli E.Sartori S.Boniver C.Murgia A. + GENES - -
PPP2R5D variants in patients with variable neurodevelopmental phenotype 2020 Maria Cristina AspromonteEmanuela LeonardiRoberta PolliElisa BettellaMarilena CameranAlessandra Murgia + - - PPP2R5D variants in patients with variable neurodevelopmental phenotype
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 - -
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 - -
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 - -
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
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
CNTNAP2 mutations and autosomal dominant epilepsy with auditory features 2018 Leonardi E.Dazzo E.Aspromonte M. C.Tabaro F.Tosatto S. C. E.Nobile C. + EPILEPSY RESEARCH - -
CNTNAP2 mutations and autosomal dominant epilepsy with auditory features 2018 Leonardi, EmanuelaDazzo, EmanuelaASPROMONTE, MARIA CRISTINATabaro, FrancescoPASCARELLI, STEFANOTosatto, Silvio C. E.Murgia, Alessandra + EPILEPSY RESEARCH - -
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
DisProt 7.0: A major update of the database of disordered proteins 2017 PIOVESAN, DAMIANOMICETIC, IVANNECCI, MARCOQUAGLIA, FEDERICAAspromonte, Maria CristinaGASPARINI, ALESSANDRAHATOS, ANDRÁSLEONARDI, EMANUELAMINERVINI, GIOVANNITONELLO, FIORELLATOSATTO, SILVIO + NUCLEIC ACIDS RESEARCH - -
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
Mostrati risultati da 1 a 16 di 16
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