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Clinical Genetics
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February 21, 2007
Identification of 14 novel GLB1 mutations, including five deletions, in 19 patients with GM1 gangliosidosis from South America
R 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 gangliosidosis
L 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 disease
B 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 disease
B 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 epilepsy
V 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 chromosome
B Cormand, D Grinberg, L Gort, et al.
Prenatal Diagnosis
|
April 29, 1998
Reliable co-segregation analysis for prenatal diagnosis and heterozygote detection in Gaucher disease
B 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 cells
D 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 patients
B Cormand, L Vilageliu, S Balcells, et al.
Page
of 6
Search research articles
Search
Showing results (11-20 of 60) with videos related to
Sort By:
Page
of 6
Clinical Genetics
|
February 21, 2007
Identification of 14 novel GLB1 mutations, including five deletions, in 19 patients with GM1 gangliosidosis from South America
R 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 gangliosidosis
L 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 disease
B 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 disease
B 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 epilepsy
V 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 chromosome
B Cormand, D Grinberg, L Gort, et al.
Prenatal Diagnosis
|
April 29, 1998
Reliable co-segregation analysis for prenatal diagnosis and heterozygote detection in Gaucher disease
B 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 cells
D 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 patients
B Cormand, L Vilageliu, S Balcells, et al.
Page
of 6