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Stefano Regis

Showing results (21-30 of 42) with videos related to

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Journal of Molecular Medicine (Berlin, Germany)|May 16, 2006
Multiple cryptic splice sites can be activated by IDS point mutations generating misspliced transcriptsSusanna Lualdi, Maria G Pittis, Stefano Regis, et al.
Biochemical and Biophysical Research Communications|November 22, 2005
Multiplex real-time PCR for detection of deletions and duplications in dystrophin geneMonica Traverso, Mauro Malnati, Carlo Minetti, et al.
Clinical Genetics|May 29, 2013
Further genotype-phenotype correlation emerging from two families with PLP1 exon 4 skippingRoberta Biancheri, Serena Grossi, Stefano Regis, et al.
Human Mutation|August 31, 2002
Analysis of the glucocerebrosidase gene and mutation profile in 144 Italian gaucher patientsMirella Filocamo, Raffaella Mazzotti, Marina Stroppiano, et al.
International Journal of Molecular Sciences|April 13, 2023
Altered Mitochondrial Dynamic in Lymphoblasts and Fibroblasts Mutated for <i>FANCA-A</i> Gene: The Central Role of DRP1Nadia Bertola, Silvia Bruno, Cristina Capanni, et al.
Antioxidants (Basel, Switzerland)|May 27, 2023
Effects of Deacetylase Inhibition on the Activation of the Antioxidant Response and Aerobic Metabolism in Cellular Models of Fanconi AnemiaNadia Bertola, Stefano Regis, Silvia Bruno, et al.
Neurogenetics|September 2, 2008
Molecular and functional analysis of the HEXB gene in Italian patients affected with Sandhoff disease: identification of six novel allelesStefania Zampieri, Mirella Filocamo, Emanuele Buratti, et al.
Journal of Inherited Metabolic Disease|April 25, 2012
Cell surface associated glycohydrolases in normal and Gaucher disease fibroblastsMassimo Aureli, Rosaria Bassi, Nicoletta Loberto, et al.
Frontiers in Immunology|August 27, 2019
Cell-Laden Hydrogel as a Clinical-Relevant 3D Model for Analyzing Neuroblastoma Growth, Immunophenotype, and Susceptibility to TherapiesAlessandra Marrella, Alessandra Dondero, Maurizio Aiello, et al.
Cellular and Molecular Life Sciences : CMLS|June 24, 2025
miR-29a-3p and TGF-β Axis in Fanconi anemia: mechanisms driving metabolic dysfunction and genome stabilityNadia Bertola, Stefano Regis, Vanessa Cossu, et al.
Pageof 5

Showing results (21-30 of 42) with videos related to

Sort By:
Pageof 5
Journal of Molecular Medicine (Berlin, Germany)|May 16, 2006
Multiple cryptic splice sites can be activated by IDS point mutations generating misspliced transcriptsSusanna Lualdi, Maria G Pittis, Stefano Regis, et al.
Biochemical and Biophysical Research Communications|November 22, 2005
Multiplex real-time PCR for detection of deletions and duplications in dystrophin geneMonica Traverso, Mauro Malnati, Carlo Minetti, et al.
Clinical Genetics|May 29, 2013
Further genotype-phenotype correlation emerging from two families with PLP1 exon 4 skippingRoberta Biancheri, Serena Grossi, Stefano Regis, et al.
Human Mutation|August 31, 2002
Analysis of the glucocerebrosidase gene and mutation profile in 144 Italian gaucher patientsMirella Filocamo, Raffaella Mazzotti, Marina Stroppiano, et al.
International Journal of Molecular Sciences|April 13, 2023
Altered Mitochondrial Dynamic in Lymphoblasts and Fibroblasts Mutated for <i>FANCA-A</i> Gene: The Central Role of DRP1Nadia Bertola, Silvia Bruno, Cristina Capanni, et al.
Antioxidants (Basel, Switzerland)|May 27, 2023
Effects of Deacetylase Inhibition on the Activation of the Antioxidant Response and Aerobic Metabolism in Cellular Models of Fanconi AnemiaNadia Bertola, Stefano Regis, Silvia Bruno, et al.
Neurogenetics|September 2, 2008
Molecular and functional analysis of the HEXB gene in Italian patients affected with Sandhoff disease: identification of six novel allelesStefania Zampieri, Mirella Filocamo, Emanuele Buratti, et al.
Journal of Inherited Metabolic Disease|April 25, 2012
Cell surface associated glycohydrolases in normal and Gaucher disease fibroblastsMassimo Aureli, Rosaria Bassi, Nicoletta Loberto, et al.
Frontiers in Immunology|August 27, 2019
Cell-Laden Hydrogel as a Clinical-Relevant 3D Model for Analyzing Neuroblastoma Growth, Immunophenotype, and Susceptibility to TherapiesAlessandra Marrella, Alessandra Dondero, Maurizio Aiello, et al.
Cellular and Molecular Life Sciences : CMLS|June 24, 2025
miR-29a-3p and TGF-β Axis in Fanconi anemia: mechanisms driving metabolic dysfunction and genome stabilityNadia Bertola, Stefano Regis, Vanessa Cossu, et al.
Pageof 5