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Mirella Filocamo

Showing results (31-40 of 103) with videos related to

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Human Mutation|April 3, 2007
Molecular analysis and characterization of nine novel CTSK mutations in twelve patients affected by pycnodysostosis. Mutation in brief #961. OnlineMichela Donnarumma, Stefano Regis, Barbara Tappino, et al.
The Journal of Molecular Diagnostics : JMD|September 3, 2011
A novel DHPLC-based procedure for the analysis of COL1A1 and COL1A2 mutations in osteogenesis imperfectaAntonella Fuccio, Mariangela Iorio, Felice Amato, et al.
Human Molecular Genetics|October 19, 2014
Glucocerebrosidase deficiency in zebrafish affects primary bone ossification through increased oxidative stress and reduced Wnt/β-catenin signalingIlaria Zancan, Stefania Bellesso, Roberto Costa, et al.
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.
Molecular Genetics and Metabolism|May 21, 2009
Biochemical and molecular findings in a patient with myoclonic epilepsy due to a mistarget of the beta-glucosidase enzymeAndrea Dardis, Mirella Filocamo, Serena Grossi, 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 10, 2005
Molecular analysis of the HEXA gene in Italian patients with infantile and late onset Tay-Sachs disease: detection of fourteen novel allelesAnna Lisa E Montalvo, Mirella Filocamo, Kristian Vlahovicek, et al.
Human Mutation|April 3, 2007
Mutational analysis of the HGSNAT gene in Italian patients with mucopolysaccharidosis IIIC (Sanfilippo C syndrome). Mutation in brief #959. OnlineAnthony Olind Fedele, Mirella Filocamo, Maja Di Rocco, et al.
European Journal of Medical Genetics|January 2, 2010
Craniosynostosis: A rare complication of pycnodysostosisSara Osimani, Isabelle Husson, Sandrine Passemard, et al.
Molecular Genetics and Metabolism|January 10, 2012
Lysosomal lipase deficiency: molecular characterization of eleven patients with Wolman or cholesteryl ester storage diseaseTommaso Fasano, Livia Pisciotta, Letizia Bocchi, et al.
Pageof 11

Showing results (31-40 of 103) with videos related to

Sort By:
Pageof 11
Human Mutation|April 3, 2007
Molecular analysis and characterization of nine novel CTSK mutations in twelve patients affected by pycnodysostosis. Mutation in brief #961. OnlineMichela Donnarumma, Stefano Regis, Barbara Tappino, et al.
The Journal of Molecular Diagnostics : JMD|September 3, 2011
A novel DHPLC-based procedure for the analysis of COL1A1 and COL1A2 mutations in osteogenesis imperfectaAntonella Fuccio, Mariangela Iorio, Felice Amato, et al.
Human Molecular Genetics|October 19, 2014
Glucocerebrosidase deficiency in zebrafish affects primary bone ossification through increased oxidative stress and reduced Wnt/β-catenin signalingIlaria Zancan, Stefania Bellesso, Roberto Costa, et al.
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.
Molecular Genetics and Metabolism|May 21, 2009
Biochemical and molecular findings in a patient with myoclonic epilepsy due to a mistarget of the beta-glucosidase enzymeAndrea Dardis, Mirella Filocamo, Serena Grossi, 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 10, 2005
Molecular analysis of the HEXA gene in Italian patients with infantile and late onset Tay-Sachs disease: detection of fourteen novel allelesAnna Lisa E Montalvo, Mirella Filocamo, Kristian Vlahovicek, et al.
Human Mutation|April 3, 2007
Mutational analysis of the HGSNAT gene in Italian patients with mucopolysaccharidosis IIIC (Sanfilippo C syndrome). Mutation in brief #959. OnlineAnthony Olind Fedele, Mirella Filocamo, Maja Di Rocco, et al.
European Journal of Medical Genetics|January 2, 2010
Craniosynostosis: A rare complication of pycnodysostosisSara Osimani, Isabelle Husson, Sandrine Passemard, et al.
Molecular Genetics and Metabolism|January 10, 2012
Lysosomal lipase deficiency: molecular characterization of eleven patients with Wolman or cholesteryl ester storage diseaseTommaso Fasano, Livia Pisciotta, Letizia Bocchi, et al.
Pageof 11