BETTELLA, ELISA

BETTELLA, ELISA  

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Risultati 1 - 12 di 12 (tempo di esecuzione: 0.026 secondi).
Titolo Data di pubblicazione Autori Rivista Serie Titolo libro
A novel CDKL5 mutation in a 47,XXY boy with the early-onset seizure variant of Rett syndrome. 2009 Sartori SPolli RBettella EMURGIA, ALESSANDRA + AMERICAN JOURNAL OF MEDICAL GENETICS. PART A - -
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 - -
A PATHOGENIC ROLE OF THE X-LINKED CYCLIN-DEPENDENT KINASE-LIKE 5 AND ARISTALESS-RELATED HOMEOBOX GENES IN EPILEPTIC ENCEPHALOPATHY OF UNKNOWN ETIOLOGY WITH ONSET IN THE FIRST YEAR OF LIFE 2011 SARTORI SPOLLI RBETTELLA ETOLDO, IRENEPERILONGO, GIORGIOMURGIA, ALESSANDRA + JOURNAL OF CHILD NEUROLOGY - -
Brain malformations associated to Aldh7a1 gene mutations: Report of a novel homozygous mutation and literature review 2018 Toldo, IreneBONARDI, CLAUDIA MARIABettella, ElisaPolli, RobertaTalenti, GiacomoBurlina, AlbertoSartori, StefanoMurgia, Alessandra EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY - -
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 - -
Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders 2019 Bettella E.Liu C.Long M.Zhao W.Hu Z.Castiglia L.Zhu B.Sartori S.Murgia A. + NATURE COMMUNICATIONS - -
Early-onset epileptic encephalopathy in a girl carrying a truncating mutation of the ARX gene: rethinking the ARX phenotype in females 2013 BETTELLA, ELISAPOLLI, ROBERTALEONARDI, EMANUELASARTORI, STEFANOMURGIA, ALESSANDRA + CLINICAL GENETICS - -
Familial Ohtahara syndrome due to a novel ARX gene mutation 2010 Sartori SBettella EMURGIA, ALESSANDRA + AMERICAN JOURNAL OF MEDICAL GENETICS. PART A - -
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 - -
Identification of Four NovelPCDH19Mutations and Prediction of Their Functional Impact 2014 Emanuela LeonardiStefano SartoriBETTELLA, ELISARoberta PolliMURGIA, ALESSANDRA + ANNALS OF HUMAN GENETICS - -
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 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 - -