Showing results (1-10 of 8) with videos related to
Sort By:
Pageof 1
The Journal of Molecular Diagnostics : JMD|July 21, 2017
GBA Analysis in Next-Generation Era: Pitfalls, Challenges, and Possible SolutionsStefania Zampieri, Silvia Cattarossi, Bruno Bembi, et al.Clinical Genetics|July 18, 2024
The c.-265G>A GLA gene promoter variant causes Fabry disease: The hidden culprit identifiedStefania Zampieri, Silvia Cattarossi, Lorenzo Ferri, 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.International Journal of Molecular Sciences|June 27, 2024
Deficiency of Glucocerebrosidase Activity beyond Gaucher Disease: PSAP and LIMP-2 DysfunctionsEleonora Pavan, Paolo Peruzzo, Silvia Cattarossi, et al.Neuromuscular Disorders : NMD|April 24, 2017
Investigation on acute effects of enzyme replacement therapy and influence of clinical severity on physiological variables related to exercise tolerance in patients with late onset Pompe diseaseAnnalisa Sechi, Desy Salvadego, Alessandro Da Ponte, 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.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.Journal of Clinical Medicine|March 7, 2020
Molecular Genetics of Niemann-Pick Type C Disease in Italy: An Update on 105 Patients and Description of 18 NPC1 Novel VariantsAndrea Dardis, Stefania Zampieri, Cinzia Gellera, et al.Pageof 1