Sfoglia per Autore

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Mostrati risultati da 1 a 20 di 148
Titolo Data di pubblicazione Autore(i) Rivista Serie Titolo libro
Feasibility of Screening for Chromosome 15 Imprinting Disorders in 16 579 Newborns by Using a Novel Genomic Workflow 2022 Murgia, AlessandraLeonardi, EmanuelaPolli, Roberta + JAMA NETWORK OPEN - -
A Supervised Classification of Children with Fragile X Syndrome and Controls Based on Kinematic and sEMG Parameters 2022 Weronika Joanna PiatkowskaFabiola SpolaorMarco RomanatoRoberta PolliAlessandra MurgiaZimi Sawacha + APPLIED SCIENCES - -
A Missense de Novo Variant in the CASK -interactor KIRREL3 Gene Leading to Neurodevelopmental Disorder with Mild Cerebellar Hypoplasia 2021 Leonardi E.Polli R.Murgia A. + NEUROPEDIATRICS - -
A supervised classification of children with fragile X syndrome and controls driven by gait analysis data 2021 W. PiatkowskaM. RomanatoF. SpolaorA. MurgiaZ. Sawacha + GAIT & POSTURE - -
Feasibility and reliability assessment of video-based motion analysis and surface electromyography in children with fragile x during gait 2021 Sawacha Z.Spolaor F.Piatkowska W. J.Cibin F.Guiotto A.Polli R.Murgia A. + SENSORS - -
Von Hippel-Lindau disease and multispecialist team 2021 Pavesi G.Feletti A.Scarpa B.Schiavi F.Taschin E.Zanoletti E.Piermarocchi S.Murgia A. + JOURNAL OF NEUROSURGICAL SCIENCES - -
Impact of the COVID-19 Italian Lockdown on the Physiological and Psychological Well-Being of Children with Fragile X Syndrome and Their Families 2021 Di Giorgio, ElisaPolli, RobertaLunghi, MarcoMurgia, Alessandra INTERNATIONAL JOURNAL OF ENVIRONMENTAL RESEARCH AND PUBLIC HEALTH - -
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 - -
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
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 - -
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 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 - -
Alterations in surface EMG during gait in children with Fragile X Syndrome 2020 Sawacha Z.Spolaor F.Piatkowska W.Cibin F.Pavan D.Guiotto A.Polli R.Murgia A. + GAIT & POSTURE - -
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 - -
Expanding the genetic landscape of Rett syndrome to include lysine acetyltransferase 6A (KAT6A) 2020 Leonardi E.Murgia A. + JOURNAL OF GENETICS AND GENOMICS - -
Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND) 2020 Emanuela LeonardiRoberta PolliAlessandra Murgia + EUROPEAN JOURNAL OF MEDICAL GENETICS - -
Cluster analysis of electromyographic data in children with Fragile X Syndrome and controls 2020 Piatkowska WSawacha ZSpolaor FRomanato MCibin FPavan DGuiotto APolli RMurgia A + GAIT & POSTURE - -
Surface EMG during gait in children with fragile X syndrome: could this become a measurable outcome? 2019 Sawacha, Z.Spolaor, F.Cibin, F.Piatkowska, W.Pavan, D.Guiotto, A.Polli, R.Murgia, A. + GAIT & POSTURE - -
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 - -
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 - -
Mostrati risultati da 1 a 20 di 148
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