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Neuropediatrics|April 14, 2021
A Missense De Novo Variant in the CASK-interactor KIRREL3 Gene Leading to Neurodevelopmental Disorder with Mild Cerebellar HypoplasiaClaudia Ciaccio, Emanuela Leonardi, Roberta Polli, et al.Sensors (Basel, Switzerland)|July 24, 2021
Feasibility and Reliability Assessment of Video-Based Motion Analysis and Surface Electromyography in Children with Fragile X during GaitZimi Sawacha, Fabiola Spolaor, Weronika Joanna Piątkowska, et al.Neuropsychologia|November 6, 2012
Genetics and mathematics: FMR1 premutation female carriersCarlo Semenza, Sabrina Bonollo, Roberta Polli, et al.Journal of Intellectual Disability Research : JIDR|April 8, 2025
Children With Fragile X Syndrome Display a Switch Towards Fast Fibres in Their Recruitment Strategy During GaitFabiola Spolaor, Federica Beghetti, Weronika Piatkowska, et al.Frontiers in Neurology|January 4, 2021
Identification of <i>SETBP1</i> Mutations by Gene Panel Sequencing in Individuals With Intellectual Disability or With "Developmental and Epileptic Encephalopathy"Emanuela Leonardi, Elisa Bettella, Maria Federica Pelizza, et al.Cells|July 14, 2023
Activation Ratio Correlates with IQ in Female Carriers of the <i>FMR1</i> PremutationDragana Protic, Roberta Polli, Ye Hyun Hwang, et al.European Journal of Human Genetics : EJHG|August 9, 2012
The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathyStephanie Fehr, Meredith Wilson, Jenny Downs, et al.Genes|March 28, 2020
A Novel WAC Loss of Function Mutation in an Individual Presenting with Encephalopathy Related to Status Epilepticus during Sleep (ESES)Emanuela Leonardi, Mariagrazia Bellini, Maria C Aspromonte, et al.Journal of Human Genetics|May 30, 2020
Frequency of Usher gene mutations in non-syndromic hearing loss: higher variability of the Usher phenotypeFederica Cesca, Elisa Bettella, Roberta Polli, et al.Journal of Child Neurology|April 13, 2011
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 lifeStefano Sartori, Roberta Polli, Elisa Bettella, et al.Pageof 3