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International Journal of Environmental Research and Public Health|June 2, 2021
Impact of the COVID-19 Italian Lockdown on the Physiological and Psychological Well-Being of Children with Fragile X Syndrome and Their FamiliesElisa Di Giorgio, Roberta Polli, Marco Lunghi, et al.International Journal of Molecular Sciences|January 8, 2025
Somatic Instability Leading to Mosaicism in Fragile X Syndrome and Associated Disorders: Complex Mechanisms, Diagnostics, and Clinical RelevanceDragana Protic, Roberta Polli, Elisa Bettella, et al.Molecular Diagnosis & Therapy|August 4, 2006
Molecular characterization of large deletions in the von Hippel-Lindau (VHL) gene by quantitative real-time PCR: the hypothesis of an alu-mediated mechanism underlying VHL gene rearrangementsAlberto Casarin, Maddalena Martella, Roberta Polli, et al.International Journal of Audiology|September 6, 2002
Connexin 26 preverbal hearing impairment: mutation prevalence and heterozygosity in a selected populationEva Orzan, Alessandra Murgia, Roberta Polli, et al.Journal of Child Neurology|May 20, 2008
Angelman syndrome due to a novel splicing mutation of the UBE3A geneStefano Sartori, Laura Anesi, Roberta Polli, et al.International Journal of Pediatric Otorhinolaryngology|December 31, 2017
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 membersFederica Cesca, Elisa Bettella, Roberta Polli, et al.American Journal of Medical Genetics. Part A|January 24, 2009
A novel CDKL5 mutation in a 47,XXY boy with the early-onset seizure variant of Rett syndromeStefano Sartori, Gabriella Di Rosa, Roberta Polli, et al.Journal of Human Genetics|September 29, 2006
Molecular analysis of two uncharacterized sequence variants of the VHL geneMaddalena Martella, Leonardo Salviati, Alberto Casarin, et al.Annals of Human Genetics|September 18, 2014
Identification of four novel PCDH19 Mutations and prediction of their functional impactEmanuela Leonardi, Stefano Sartori, Marilena Vecchi, et al.European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|July 15, 2018
Brain malformations associated to Aldh7a1 gene mutations: Report of a novel homozygous mutation and literature reviewIrene Toldo, Claudia Maria Bonardi, Elisa Bettella, et al.Pageof 3