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Mirella Filocamo

Showing results (21-30 of 103) with videos related to

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European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|January 27, 2007
Cerebellar atrophy without cerebellar cortex hyperintensity in infantile neuroaxonal dystrophy (INAD) due to PLA2G6 mutationRoberta Biancheri, Andrea Rossi, Giannina Alpigiani, et al.
Human Molecular Genetics|December 10, 2019
A transcriptional and post-transcriptional dysregulation of Dishevelled 1 and 2 underlies the Wnt signaling impairment in type I Gaucher disease experimental modelsRoberto Costa, Stefania Bellesso, Susanna Lualdi, et al.
Prenatal Diagnosis|December 27, 2005
First-trimester fetal nuchal translucency and inherited metabolic disordersPierangela De Biasio, Federico Prefumo, Valentina Casagrande, et al.
Molecular Genetics and Metabolism|June 20, 2006
Somatic intragenic recombination of the arylsulfatase A gene in a metachromatic leukodystrophy patientStefano Regis, Susanna Lualdi, Alessandra Biffi, et al.
American Journal of Medical Genetics. Part A|June 10, 2003
Expression studies of two novel in CIS-mutations identified in an intermediate case of Hunter syndromeVerena Ricci, Mirella Filocamo, Stefano Regis, et al.
Human Mutation|April 16, 2005
Characterization of iduronate-2-sulfatase gene-pseudogene recombinations in eight patients with Mucopolysaccharidosis type II revealed by a rapid PCR-based methodSusanna Lualdi, Stefano Regis, Maja Di Rocco, et al.
European Journal of Human Genetics : EJHG|March 5, 2009
Segregation analysis in a family at risk for the Maroteaux-Lamy syndrome conclusively reveals c.1151G>A (p.S384N) as to be a polymorphismAlessandra Zanetti, Elena Ferraresi, Luigi Picci, et al.
Molecular Genetics and Metabolism|November 3, 2016
MLPA-based approach for initial and simultaneous detection of GBA deletions and recombinant alleles in patients affected by Gaucher DiseaseGiulia Amico, Serena Grossi, Raymon Vijzelaar, et al.
Human Mutation|October 15, 2015
Mutation Update of ARSA and PSAP Genes Causing Metachromatic LeukodystrophyMartina Cesani, Laura Lorioli, Serena Grossi, et al.
European Journal of Human Genetics : EJHG|June 7, 2012
Expanded spectrum of Pelizaeus-Merzbacher-like disease: literature revision and description of a novel GJC2 mutation in an unusually severe formRoberta Biancheri, Camillo Rosano, Laura Denegri, et al.
Pageof 11

Showing results (21-30 of 103) with videos related to

Sort By:
Pageof 11
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|January 27, 2007
Cerebellar atrophy without cerebellar cortex hyperintensity in infantile neuroaxonal dystrophy (INAD) due to PLA2G6 mutationRoberta Biancheri, Andrea Rossi, Giannina Alpigiani, et al.
Human Molecular Genetics|December 10, 2019
A transcriptional and post-transcriptional dysregulation of Dishevelled 1 and 2 underlies the Wnt signaling impairment in type I Gaucher disease experimental modelsRoberto Costa, Stefania Bellesso, Susanna Lualdi, et al.
Prenatal Diagnosis|December 27, 2005
First-trimester fetal nuchal translucency and inherited metabolic disordersPierangela De Biasio, Federico Prefumo, Valentina Casagrande, et al.
Molecular Genetics and Metabolism|June 20, 2006
Somatic intragenic recombination of the arylsulfatase A gene in a metachromatic leukodystrophy patientStefano Regis, Susanna Lualdi, Alessandra Biffi, et al.
American Journal of Medical Genetics. Part A|June 10, 2003
Expression studies of two novel in CIS-mutations identified in an intermediate case of Hunter syndromeVerena Ricci, Mirella Filocamo, Stefano Regis, et al.
Human Mutation|April 16, 2005
Characterization of iduronate-2-sulfatase gene-pseudogene recombinations in eight patients with Mucopolysaccharidosis type II revealed by a rapid PCR-based methodSusanna Lualdi, Stefano Regis, Maja Di Rocco, et al.
European Journal of Human Genetics : EJHG|March 5, 2009
Segregation analysis in a family at risk for the Maroteaux-Lamy syndrome conclusively reveals c.1151G>A (p.S384N) as to be a polymorphismAlessandra Zanetti, Elena Ferraresi, Luigi Picci, et al.
Molecular Genetics and Metabolism|November 3, 2016
MLPA-based approach for initial and simultaneous detection of GBA deletions and recombinant alleles in patients affected by Gaucher DiseaseGiulia Amico, Serena Grossi, Raymon Vijzelaar, et al.
Human Mutation|October 15, 2015
Mutation Update of ARSA and PSAP Genes Causing Metachromatic LeukodystrophyMartina Cesani, Laura Lorioli, Serena Grossi, et al.
European Journal of Human Genetics : EJHG|June 7, 2012
Expanded spectrum of Pelizaeus-Merzbacher-like disease: literature revision and description of a novel GJC2 mutation in an unusually severe formRoberta Biancheri, Camillo Rosano, Laura Denegri, et al.
Pageof 11