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International Journal of Pediatric Otorhinolaryngology|January 16, 2007
Connexin 26 deafness is not always congenitalEva Orzan, Alessandra MurgiaInternational 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.Annals of Human Genetics|April 6, 2011
Identification and in silico analysis of novel von Hippel-Lindau (VHL) gene variants from a large populationEmanuela Leonardi, Maddalena Martella, Silvio C E Tosatto, et al.Scientific Reports|July 30, 2017
Dynamic scaffolds for neuronal signaling: in silico analysis of the TANC protein familyAlessandra Gasparini, Silvio C E Tosatto, Alessandra Murgia, et al.Journal of Audiology & Otology|March 5, 2025
Advances in Understanding the Molecular Dynamics of Autosomal Dominant Auditory Neuropathy: Unveiling a Novel DIAPH3 Gene Variant Associated With Sensorineural Hearing Loss and Bilateral Vestibular Aqueduct EnlargementGianmaria Miolo, Francesco Margiotta, Alessandra Murgia, 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.Pageof 7