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Daniel Grinberg

Showing results (31-40 of 181) with videos related to

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Molecular Genetics and Metabolism|April 15, 2008
Maroteaux-Lamy syndrome: functional characterization of pathogenic mutations and polymorphisms in the arylsulfatase B geneElena Garrido, Bru Cormand, John J Hopwood, et al.
Human Mutation|May 1, 2009
Identification and characterization of SMPD1 mutations causing Niemann-Pick types A and B in Spanish patientsLaura Rodríguez-Pascau, Laura Gort, Edward H Schuchman, et al.
Human Mutation|August 31, 2006
Twenty-one novel mutations in the GLB1 gene identified in a large group of GM1-gangliosidosis and Morquio B patients: possible common origin for the prevalent p.R59H mutation among gypsiesRaül Santamaria, Amparo Chabás, Maria Josep Coll, et al.
Molecular Genetics and Metabolism|November 2, 2010
Molecular characterization of a new deletion of the GBA1 gene due to an inter Alu recombination eventMonica Cozar, Bruno Bembi, Silvia Dominissini, et al.
Journal of Inherited Metabolic Disease|June 26, 2010
Present and future of antisense therapy for splicing modulation in inherited metabolic diseaseBelen Pérez, Laura Rodríguez-Pascau, Luisa Vilageliu, et al.
Proteins|September 7, 2007
An evolutionary and structure-based docking model for glucocerebrosidase-saposin C and glucocerebrosidase-substrate interactions - relevance for Gaucher diseaseSílvia Atrian, Eduardo López-Viñas, Paulino Gómez-Puertas, et al.
Stem Cell Research|December 12, 2019
Generation of two NAGLU-mutated homozygous cell lines from healthy induced pluripotent stem cells using CRISPR/Cas9 to model Sanfilippo B syndromeNoelia Benetó, Monica Cozar, Laura Gort, et al.
The Journal of Thoracic and Cardiovascular Surgery|October 10, 2019
Mitral valve repair based on physical characterization of coaptation forcesDaniel Grinberg, Alexis Bruhat, Pierre-Jean Cottinet, et al.
The Journals of Gerontology. Series A, Biological Sciences and Medical Sciences|July 20, 2007
Bone mass of a 113-year-old manLeonardo Mellibovsky, Mariona Bustamante, Pau Lluch, et al.
Human Mutation|January 24, 2006
Functional assays testing pathogenicity of 14 cystathionine-beta synthase mutationsRoser Urreizti, Carla Asteggiano, Mónica Cozar, et al.
Pageof 19

Showing results (31-40 of 181) with videos related to

Sort By:
Pageof 19
Molecular Genetics and Metabolism|April 15, 2008
Maroteaux-Lamy syndrome: functional characterization of pathogenic mutations and polymorphisms in the arylsulfatase B geneElena Garrido, Bru Cormand, John J Hopwood, et al.
Human Mutation|May 1, 2009
Identification and characterization of SMPD1 mutations causing Niemann-Pick types A and B in Spanish patientsLaura Rodríguez-Pascau, Laura Gort, Edward H Schuchman, et al.
Human Mutation|August 31, 2006
Twenty-one novel mutations in the GLB1 gene identified in a large group of GM1-gangliosidosis and Morquio B patients: possible common origin for the prevalent p.R59H mutation among gypsiesRaül Santamaria, Amparo Chabás, Maria Josep Coll, et al.
Molecular Genetics and Metabolism|November 2, 2010
Molecular characterization of a new deletion of the GBA1 gene due to an inter Alu recombination eventMonica Cozar, Bruno Bembi, Silvia Dominissini, et al.
Journal of Inherited Metabolic Disease|June 26, 2010
Present and future of antisense therapy for splicing modulation in inherited metabolic diseaseBelen Pérez, Laura Rodríguez-Pascau, Luisa Vilageliu, et al.
Proteins|September 7, 2007
An evolutionary and structure-based docking model for glucocerebrosidase-saposin C and glucocerebrosidase-substrate interactions - relevance for Gaucher diseaseSílvia Atrian, Eduardo López-Viñas, Paulino Gómez-Puertas, et al.
Stem Cell Research|December 12, 2019
Generation of two NAGLU-mutated homozygous cell lines from healthy induced pluripotent stem cells using CRISPR/Cas9 to model Sanfilippo B syndromeNoelia Benetó, Monica Cozar, Laura Gort, et al.
The Journal of Thoracic and Cardiovascular Surgery|October 10, 2019
Mitral valve repair based on physical characterization of coaptation forcesDaniel Grinberg, Alexis Bruhat, Pierre-Jean Cottinet, et al.
The Journals of Gerontology. Series A, Biological Sciences and Medical Sciences|July 20, 2007
Bone mass of a 113-year-old manLeonardo Mellibovsky, Mariona Bustamante, Pau Lluch, et al.
Human Mutation|January 24, 2006
Functional assays testing pathogenicity of 14 cystathionine-beta synthase mutationsRoser Urreizti, Carla Asteggiano, Mónica Cozar, et al.
Pageof 19