Showing results (11-20 of 43) with videos related to

Sort By:
Pageof 5
Journal of Cellular and Molecular Medicine|September 9, 2008
Oxidative stress in NPC1 deficient cells: protective effect of allopregnanoloneStefania Zampieri, Synthia H Mellon, Terry D Butters, et al.
Biomedicines|February 24, 2024
Clenching the Strings of Bruxism Etiopathogenesis: Association Analyses on Genetics and Environmental Risk Factors in a Deeply Characterized Italian CohortAlessandro Pecori, Valentina Luppieri, Aurora Santin, et al.
International Journal of Molecular Sciences|June 2, 2021
Accurate Molecular Diagnosis of Gaucher Disease Using Clinical Exome Sequencing as a First-Tier TestStefania Zampieri, Silvia Cattarossi, Eleonora Pavan, et al.
Genes|February 26, 2025
Functional Testing of ETV6 Variants: Is the Evaluation of Their Intracellular Localization Sufficient in Assessing Pathogenicity?Daniele Ammeti, Tonia De Simone, Stefania Zampieri, et al.
International Journal of Molecular Sciences|October 16, 2025
A Complete Picture of the CYP2D6 Heterogeneity in Northeastern Italian Genetic IsolatesPaola Tesolin, Giuseppe Giovanni Nardone, Aurora Santin, et al.
JIMD Reports|September 9, 2020
Early biochemical effects of velmanase alfa in a 7-month-old infant with alpha-mannosidosisLucia Santoro, Lucia Zampini, Lucia Padella, et al.
Scientific Reports|September 14, 2018
Histone acetylation as a new mechanism for bilirubin-induced encephalopathy in the Gunn ratEleonora Vianello, Stefania Zampieri, Thomas Marcuzzo, et al.
Orphanet Journal of Rare Diseases|February 26, 2013
A human neuronal model of Niemann Pick C disease developed from stem cells isolated from patient's skinNatascha Bergamin, Andrea Dardis, Antonio Beltrami, et al.
Nucleic Acids Research|October 24, 2013
Functional characterization of the common c.-32-13T>G mutation of GAA gene: identification of potential therapeutic agentsAndrea Dardis, Irene Zanin, Stefania Zampieri, et al.
Human Molecular Genetics|April 6, 2017
Shortened primary cilium length and dysregulated Sonic hedgehog signaling in Niemann-Pick C1 diseaseSonia Canterini, Jessica Dragotto, Andrea Dardis, et al.
Pageof 5