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B Cormand

Showing results (11-20 of 48) with videos related to

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American Journal of Medical Genetics|June 27, 1997
Two new mild homozygous mutations in Gaucher disease patients: clinical signs and biochemical analysesB Cormand, D Grinberg, L Gort, et al.
Revista De Neurologia|May 25, 2007
[Genetic advances in attention deficit hyperactivity disorder]J A Ramos-Quiroga, M Ribasés-Haro, R Bosch-Munsó, et al.
Human Mutation|January 1, 1995
Gaucher disease in Spanish patients: analysis of eight mutationsB Cormand, L Vilageliu, J M Burguera, et al.
Human Mutation|August 31, 2002
Splicing mutations, mainly IVS6-1(G>T), account for 70% of fumarylacetoacetate hydrolase (FAH) gene alterations, including 7 novel mutations, in a survey of 29 tyrosinemia type I patientsJ A Arranz, F Piñol, L Kozak, et al.
American Journal of Human Genetics|March 26, 1999
Gaucher disease: the N370S mutation in Ashkenazi Jewish and Spanish patients has a common origin and arose several thousand years agoA Díaz, M Montfort, B Cormand, et al.
The Journal of Biological Chemistry|December 23, 1994
ETS transcription factors regulate the expression of the gene for the human mitochondrial ATP synthase beta-subunitJ A Villena, I Martin, O Viñas, et al.
Journal of Inherited Metabolic Disease|January 1, 1996
Neuronopathic and non-neuronopathic presentation of Gaucher disease in patients with the third most common mutation (D409H) in SpainA Chabás, B Cormand, S Balcells, et al.
Human Mutation|June 30, 2000
A CRX mutation in a Finnish family with dominant cone-rod retinal dystrophyE M Sankila, T H Joensuu, R H Hämäläinen, et al.
American Journal of Human Genetics|May 10, 2000
On the age of the most prevalent Gaucher disease-causing mutation, N370SA Díaz, M Montfort, B Cormand, et al.
Genes, Brain, and Behavior|September 29, 2011
Active and passive MDMA ('ecstasy') intake induces differential transcriptional changes in the mouse brainN Fernàndez-Castillo, M J Orejarena, M Ribasés, et al.
Pageof 5

Showing results (11-20 of 48) with videos related to

Sort By:
Pageof 5
American Journal of Medical Genetics|June 27, 1997
Two new mild homozygous mutations in Gaucher disease patients: clinical signs and biochemical analysesB Cormand, D Grinberg, L Gort, et al.
Revista De Neurologia|May 25, 2007
[Genetic advances in attention deficit hyperactivity disorder]J A Ramos-Quiroga, M Ribasés-Haro, R Bosch-Munsó, et al.
Human Mutation|January 1, 1995
Gaucher disease in Spanish patients: analysis of eight mutationsB Cormand, L Vilageliu, J M Burguera, et al.
Human Mutation|August 31, 2002
Splicing mutations, mainly IVS6-1(G>T), account for 70% of fumarylacetoacetate hydrolase (FAH) gene alterations, including 7 novel mutations, in a survey of 29 tyrosinemia type I patientsJ A Arranz, F Piñol, L Kozak, et al.
American Journal of Human Genetics|March 26, 1999
Gaucher disease: the N370S mutation in Ashkenazi Jewish and Spanish patients has a common origin and arose several thousand years agoA Díaz, M Montfort, B Cormand, et al.
The Journal of Biological Chemistry|December 23, 1994
ETS transcription factors regulate the expression of the gene for the human mitochondrial ATP synthase beta-subunitJ A Villena, I Martin, O Viñas, et al.
Journal of Inherited Metabolic Disease|January 1, 1996
Neuronopathic and non-neuronopathic presentation of Gaucher disease in patients with the third most common mutation (D409H) in SpainA Chabás, B Cormand, S Balcells, et al.
Human Mutation|June 30, 2000
A CRX mutation in a Finnish family with dominant cone-rod retinal dystrophyE M Sankila, T H Joensuu, R H Hämäläinen, et al.
American Journal of Human Genetics|May 10, 2000
On the age of the most prevalent Gaucher disease-causing mutation, N370SA Díaz, M Montfort, B Cormand, et al.
Genes, Brain, and Behavior|September 29, 2011
Active and passive MDMA ('ecstasy') intake induces differential transcriptional changes in the mouse brainN Fernàndez-Castillo, M J Orejarena, M Ribasés, et al.
Pageof 5