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Daniel Grinberg

Showing results (21-30 of 181) with videos related to

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Human Mutation|September 1, 2009
Antisense oligonucleotide treatment for a pseudoexon-generating mutation in the NPC1 gene causing Niemann-Pick type C diseaseLaura Rodríguez-Pascau, Maria Josep Coll, Lluïsa Vilageliu, et al.
Journal of Lipid Research|August 1, 2007
Expression and characterization of 14 GLB1 mutant alleles found in GM1-gangliosidosis and Morquio B patientsRaül Santamaria, Amparo Chabás, John W Callahan, et al.
Blood Cells, Molecules & Diseases|September 16, 2003
Unsuccessful chimeraplast strategy for the correction of a mutation causing Gaucher diseaseAnna Diaz-Font, Bru Cormand, Amparo Chabás, et al.
JIMD Reports|June 26, 2015
The Spectrum of Krabbe Disease in Greece: Biochemical and Molecular FindingsEvangelia Dimitriou, Monica Cozar, Irene Mavridou, et al.
JIMD Reports|February 23, 2013
Generation of a human neuronal stable cell model for niemann-pick C disease by RNA interferenceLaura Rodríguez-Pascau, Maria Josep Coll, Josefina Casas, et al.
American Journal of Medical Genetics. Part A|November 7, 2019
Extending the phenotypic spectrum of Bohring-Opitz syndrome: Mild case confirmed by functional studiesEyby Leon, Jullianne Diaz, Laura Castilla-Vallmanya, et al.
Journal of Cardiac Surgery|May 9, 2015
Combined Minimally Invasive Redo Mitral Surgery and Pectus Excavatum CorrectionMarco Vola, Daniel Grinberg, Kasra Azarnoush, et al.
Human Genetics|April 28, 2005
A mutation within the saposin D domain in a Gaucher disease patient with normal glucocerebrosidase activityAnna Diaz-Font, Bru Cormand, Raül Santamaria, et al.
The Canadian Journal of Cardiology|April 7, 2025
Occlusion of Ventricular Septal Rupture With an Amulet Left Appendage Atrial OccluderFrançois Dérimay, Ranny Issa, Justine Fort, et al.
Molecular Genetics and Metabolism|November 16, 2004
Expression and functional characterization of human mutant sulfamidase in insect cellsMagda Montfort, Elena Garrido, John J Hopwood, et al.
Pageof 19

Showing results (21-30 of 181) with videos related to

Sort By:
Pageof 19
Human Mutation|September 1, 2009
Antisense oligonucleotide treatment for a pseudoexon-generating mutation in the NPC1 gene causing Niemann-Pick type C diseaseLaura Rodríguez-Pascau, Maria Josep Coll, Lluïsa Vilageliu, et al.
Journal of Lipid Research|August 1, 2007
Expression and characterization of 14 GLB1 mutant alleles found in GM1-gangliosidosis and Morquio B patientsRaül Santamaria, Amparo Chabás, John W Callahan, et al.
Blood Cells, Molecules & Diseases|September 16, 2003
Unsuccessful chimeraplast strategy for the correction of a mutation causing Gaucher diseaseAnna Diaz-Font, Bru Cormand, Amparo Chabás, et al.
JIMD Reports|June 26, 2015
The Spectrum of Krabbe Disease in Greece: Biochemical and Molecular FindingsEvangelia Dimitriou, Monica Cozar, Irene Mavridou, et al.
JIMD Reports|February 23, 2013
Generation of a human neuronal stable cell model for niemann-pick C disease by RNA interferenceLaura Rodríguez-Pascau, Maria Josep Coll, Josefina Casas, et al.
American Journal of Medical Genetics. Part A|November 7, 2019
Extending the phenotypic spectrum of Bohring-Opitz syndrome: Mild case confirmed by functional studiesEyby Leon, Jullianne Diaz, Laura Castilla-Vallmanya, et al.
Journal of Cardiac Surgery|May 9, 2015
Combined Minimally Invasive Redo Mitral Surgery and Pectus Excavatum CorrectionMarco Vola, Daniel Grinberg, Kasra Azarnoush, et al.
Human Genetics|April 28, 2005
A mutation within the saposin D domain in a Gaucher disease patient with normal glucocerebrosidase activityAnna Diaz-Font, Bru Cormand, Raül Santamaria, et al.
The Canadian Journal of Cardiology|April 7, 2025
Occlusion of Ventricular Septal Rupture With an Amulet Left Appendage Atrial OccluderFrançois Dérimay, Ranny Issa, Justine Fort, et al.
Molecular Genetics and Metabolism|November 16, 2004
Expression and functional characterization of human mutant sulfamidase in insect cellsMagda Montfort, Elena Garrido, John J Hopwood, et al.
Pageof 19