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American Journal of Medical Genetics. Part A|July 28, 2025
Variable Intrafamilial Cardiac Phenotype Segregating With a TBX20 Missense Variant in the Putative Transcriptional Activation DomainGioia Mastromoro, Alice Traversa, Daniele Guadagnolo, et al.Movement Disorders : Official Journal of the Movement Disorder Society|January 23, 2003
Familial blepharospasm is inherited as an autosomal dominant trait and relates to a novel unassigned geneGiovanni Defazio, Francesco Brancati, Enza Maria Valente, et al.Computational and Structural Biotechnology Journal|August 18, 2020
Mechanisms of pathogenesis of missense mutations on the KDM6A-H3 interaction in type 2 Kabuki SyndromeFrancesco Petrizzelli, Tommaso Biagini, Alessandro Barbieri, et al.Computational and Structural Biotechnology Journal|July 5, 2022
KDM6A missense variants hamper H3 histone demethylation in lung squamous cell carcinomaTommaso Biagini, Francesco Petrizzelli, Salvatore Daniele Bianco, et al.FEBS Letters|August 18, 2011
Ago1 and Ago2 differentially affect cell proliferation, motility and apoptosis when overexpressed in SH-SY5Y neuroblastoma cellsChiara Parisi, Corinna Giorgi, Enrico Maria Batassa, et al.Journal of Medical Genetics|May 21, 2013
Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndromeElisabetta Flex, Andrea Ciolfi, Viviana Caputo, et al.Data in Brief|April 8, 2016
Prediction and visualization data for the interpretation of sarcomeric and non-sarcomeric DNA variants found in patients with hypertrophic cardiomyopathyIrene Bottillo, Daniela D'Angelantonio, Viviana Caputo, et al.Clinical Case Reports|April 9, 2025
Craniofacial and Dental Anomalies of a Patient Carrying Two MicroRNA Variants: A Proof-Of-Concept Case ReportCamilla Grenga, Rosanna Guarnieri, Martina Mezio, et al.Annals of Neurology|September 7, 2004
PINK1 mutations are associated with sporadic early-onset parkinsonismEnza Maria Valente, Sergio Salvi, Tamara Ialongo, et al.Journal of the American Society of Nephrology : JASN|March 29, 2014
Mutations in PAX2 associate with adult-onset FSGSMoumita Barua, Emilia Stellacci, Lorenzo Stella, et al.Pageof 7