Showing results (31-40 of 43) with videos related to
Sort By:
Pageof 5
Clinica Chimica Acta; International Journal of Clinical Chemistry|January 22, 2016
Comprehensive Evaluation of Plasma 7-Ketocholesterol and Cholestan-3β,5α,6β-Triol in an Italian Cohort of Patients Affected by Niemann-Pick Disease due to NPC1 and SMPD1 MutationsMilena Romanello, Stefania Zampieri, Nadia Bortolotti, et al.Biochimica Et Biophysica Acta. Molecular Cell Research|March 20, 2021
Expression of the tumor-expressed protein MageB2 enhances rRNA transcriptionMaría Fátima Ladelfa, Leticia Yamila Peche, Gastón Ezequiel Amato, et al.Neurogenetics|March 3, 2009
Molecular analysis of NPC1 and NPC2 gene in 34 Niemann-Pick C Italian patients: identification and structural modeling of novel mutationsTatiana Fancello, Andrea Dardis, Camillo Rosano, et al.Disease Markers|December 21, 2020
A Streamlined Approach to Rapidly Detect SARS-CoV-2 Infection Avoiding RNA Extraction: Workflow ValidationCatia Mio, Adriana Cifù, Stefania Marzinotto, et al.Biomedicines|August 28, 2025
Hidden in the Genome: The First Italian Family with North Carolina Macular Dystrophy Carrying a Novel PRDM13 and CCNC DuplicationBeatrice Spedicati, Domizia Pasquetti, Aurora Santin, et al.Biomedicines|June 26, 2026
Reply to Small, K.W. Comment on "Spedicati et al. Hidden in the Genome: The First Italian Family with North Carolina Macular Dystrophy Carrying a Novel PRDM13 and CCNC Duplication. Biomedicines 2025, 13, 1904"Beatrice Spedicati, Domizia Pasquetti, Aurora Santin, et al.Journal of Inherited Metabolic Disease|November 11, 2019
Mechanistic convergence and shared therapeutic targets in Niemann-Pick diseaseAlexandria Colaco, Ecem Kaya, Elias Adriaenssens, et al.Clinical Genetics|January 7, 2026
White-Sutton Syndrome: Insight of an Italian Cohort of 19 SubjectsAnna Facchini, Maria Pina Concas, Stefania Zampieri, et al.British Journal of Haematology|May 30, 2024
Thrombocytopenia 4 (THC4): Six novel families with mutations of the cytochrome c geneAntonio Marzollo, Stefania Zampieri, Serena Barozzi, et al.Plos One|August 1, 2012
Sequence and copy number analyses of HEXB gene in patients affected by Sandhoff disease: functional characterization of 9 novel sequence variantsStefania Zampieri, Silvia Cattarossi, Ana Maria Oller Ramirez, et al.Pageof 5