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D Grinberg

Showing results (11-20 of 60) with videos related to

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Clinical Genetics|February 21, 2007
Identification of 14 novel GLB1 mutations, including five deletions, in 19 patients with GM1 gangliosidosis from South AmericaR Santamaria, M Blanco, A Chabás, et al.
Clinical Genetics|July 31, 2007
Identification of a novel pseudodeficiency allele in the GLB1 gene in a carrier of GM1 gangliosidosisL Gort, R Santamaria, D Grinberg, et al.
Harefuah|August 12, 2006
[The International Conference for Health Technology Assessment, (Bringing HTA Into Practice) Rome, June 2005]O Tal, S Vaknin, N Hakak, et al.
Blood Cells, Molecules & Diseases|December 9, 2000
A new gene-pseudogene fusion allele due to a recombination in intron 2 of the glucocerebrosidase gene causes Gaucher diseaseB Cormand, A Díaz, D Grinberg, et al.
Human Genetics|July 1, 1997
Genetic fine localization of the beta-glucocerebrosidase (GBA) and prosaposin (PSAP) genes: implications for Gaucher diseaseB Cormand, M Montfort, A Chabás, et al.
Neuroscience Letters|June 1, 2000
No evidence of linkage to 6p markers in spanish families with juvenile myoclonic epilepsyV Obach, S Arroyo, J Santamaria, et al.
Human Mutation|April 29, 1998
Molecular analysis and clinical findings in the Spanish Gaucher disease population: putative haplotype of the N370S ancestral chromosomeB Cormand, D Grinberg, L Gort, et al.
Prenatal Diagnosis|April 29, 1998
Reliable co-segregation analysis for prenatal diagnosis and heterozygote detection in Gaucher diseaseB Cormand, M Montfort, A Chabás, et al.
Cell Growth & Differentiation : the Molecular Biology Journal of the American Association for Cancer Research|March 1, 1991
Transcriptional regulation of the int-2 gene in embryonal carcinoma cellsD Grinberg, J Thurlow, R Watson, et al.
Human Mutation|January 1, 1996
Two novel (1098insA and Y313H) and one rare (R359Q) mutations detected in exon 8 of the beta-glucocerebrosidase gene in Gaucher's disease patientsB Cormand, L Vilageliu, S Balcells, et al.
Pageof 6

Showing results (11-20 of 60) with videos related to

Sort By:
Pageof 6
Clinical Genetics|February 21, 2007
Identification of 14 novel GLB1 mutations, including five deletions, in 19 patients with GM1 gangliosidosis from South AmericaR Santamaria, M Blanco, A Chabás, et al.
Clinical Genetics|July 31, 2007
Identification of a novel pseudodeficiency allele in the GLB1 gene in a carrier of GM1 gangliosidosisL Gort, R Santamaria, D Grinberg, et al.
Harefuah|August 12, 2006
[The International Conference for Health Technology Assessment, (Bringing HTA Into Practice) Rome, June 2005]O Tal, S Vaknin, N Hakak, et al.
Blood Cells, Molecules & Diseases|December 9, 2000
A new gene-pseudogene fusion allele due to a recombination in intron 2 of the glucocerebrosidase gene causes Gaucher diseaseB Cormand, A Díaz, D Grinberg, et al.
Human Genetics|July 1, 1997
Genetic fine localization of the beta-glucocerebrosidase (GBA) and prosaposin (PSAP) genes: implications for Gaucher diseaseB Cormand, M Montfort, A Chabás, et al.
Neuroscience Letters|June 1, 2000
No evidence of linkage to 6p markers in spanish families with juvenile myoclonic epilepsyV Obach, S Arroyo, J Santamaria, et al.
Human Mutation|April 29, 1998
Molecular analysis and clinical findings in the Spanish Gaucher disease population: putative haplotype of the N370S ancestral chromosomeB Cormand, D Grinberg, L Gort, et al.
Prenatal Diagnosis|April 29, 1998
Reliable co-segregation analysis for prenatal diagnosis and heterozygote detection in Gaucher diseaseB Cormand, M Montfort, A Chabás, et al.
Cell Growth & Differentiation : the Molecular Biology Journal of the American Association for Cancer Research|March 1, 1991
Transcriptional regulation of the int-2 gene in embryonal carcinoma cellsD Grinberg, J Thurlow, R Watson, et al.
Human Mutation|January 1, 1996
Two novel (1098insA and Y313H) and one rare (R359Q) mutations detected in exon 8 of the beta-glucocerebrosidase gene in Gaucher's disease patientsB Cormand, L Vilageliu, S Balcells, et al.
Pageof 6