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Bruno Bembi

Showing results (51-60 of 101) with videos related to

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Gene|March 24, 2012
Molecular analysis of HEXA gene in Argentinean patients affected with Tay-Sachs disease: possible common origin of the prevalent c.459+5A>G mutationStefania Zampieri, Annalisa Montalvo, Mariana Blanco, et al.
Human Mutation|December 18, 2004
Identification and functional characterization of five novel mutant alleles in 58 Italian patients with Gaucher disease type 1Snjezana Miocić, Mirella Filocamo, Silvia Dominissini, et al.
Value in Health : the Journal of the International Society for Pharmacoeconomics and Outcomes Research|September 13, 2019
Value of the Rare Disease Registry of the Italian Region Friuli Venezia GiuliaFrancesca Valent, Laura Deroma, Alessandro Moro, et al.
Human Mutation|February 16, 2005
Identification and characterization of five novel MAN2B1 mutations in Italian patients with alpha-mannosidosisMichele Sbaragli, Lucia Bibi, Maria Gabriela Pittis, et al.
Rice (New York, N.Y.)|November 28, 2013
Endosperm-specific expression of human acid beta-glucosidase in a waxy riceTamara Patti, Bruno Bembi, Piero Cristin, et al.
Molecular Genetics and Metabolism Reports|December 9, 2020
<i>In vitro</i> and <i>in vivo</i> effects of Ambroxol chaperone therapy in two Italian patients affected by neuronopathic Gaucher disease and epilepsyGiovanni Ciana, Andrea Dardis, Eleonora Pavan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 24, 2010
The angiotensin-converting enzyme insertion/deletion polymorphism modifies the clinical outcome in patients with Pompe diseasePaola de Filippi, Sabrina Ravaglia, Bruno Bembi, et al.
Journal of Neuromuscular Diseases|November 19, 2016
Changing Characteristics of Late-Onset Pompe Disease Patients in Italy: Data from the Pompe RegistryCorrado Angelini, Bruno Bembi, Alberto Burlina, et al.
Orphanet Journal of Rare Diseases|September 18, 2014
Effects of miglustat treatment in a patient affected by an atypical form of Tangier diseaseAnnalisa Sechi, Andrea Dardis, Stefania Zampieri, et al.
Journal of Inherited Metabolic Disease|November 17, 2017
Newborn screening for lysosomal storage disorders by tandem mass spectrometry in North East ItalyAlberto B Burlina, Giulia Polo, Leonardo Salviati, et al.
Pageof 11

Showing results (51-60 of 101) with videos related to

Sort By:
Pageof 11
Gene|March 24, 2012
Molecular analysis of HEXA gene in Argentinean patients affected with Tay-Sachs disease: possible common origin of the prevalent c.459+5A>G mutationStefania Zampieri, Annalisa Montalvo, Mariana Blanco, et al.
Human Mutation|December 18, 2004
Identification and functional characterization of five novel mutant alleles in 58 Italian patients with Gaucher disease type 1Snjezana Miocić, Mirella Filocamo, Silvia Dominissini, et al.
Value in Health : the Journal of the International Society for Pharmacoeconomics and Outcomes Research|September 13, 2019
Value of the Rare Disease Registry of the Italian Region Friuli Venezia GiuliaFrancesca Valent, Laura Deroma, Alessandro Moro, et al.
Human Mutation|February 16, 2005
Identification and characterization of five novel MAN2B1 mutations in Italian patients with alpha-mannosidosisMichele Sbaragli, Lucia Bibi, Maria Gabriela Pittis, et al.
Rice (New York, N.Y.)|November 28, 2013
Endosperm-specific expression of human acid beta-glucosidase in a waxy riceTamara Patti, Bruno Bembi, Piero Cristin, et al.
Molecular Genetics and Metabolism Reports|December 9, 2020
<i>In vitro</i> and <i>in vivo</i> effects of Ambroxol chaperone therapy in two Italian patients affected by neuronopathic Gaucher disease and epilepsyGiovanni Ciana, Andrea Dardis, Eleonora Pavan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 24, 2010
The angiotensin-converting enzyme insertion/deletion polymorphism modifies the clinical outcome in patients with Pompe diseasePaola de Filippi, Sabrina Ravaglia, Bruno Bembi, et al.
Journal of Neuromuscular Diseases|November 19, 2016
Changing Characteristics of Late-Onset Pompe Disease Patients in Italy: Data from the Pompe RegistryCorrado Angelini, Bruno Bembi, Alberto Burlina, et al.
Orphanet Journal of Rare Diseases|September 18, 2014
Effects of miglustat treatment in a patient affected by an atypical form of Tangier diseaseAnnalisa Sechi, Andrea Dardis, Stefania Zampieri, et al.
Journal of Inherited Metabolic Disease|November 17, 2017
Newborn screening for lysosomal storage disorders by tandem mass spectrometry in North East ItalyAlberto B Burlina, Giulia Polo, Leonardo Salviati, et al.
Pageof 11