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B Cormand

Showing results (1-10 of 48) with videos related to

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Neuropediatrics|February 7, 2003
Paroxysmal kinesigenic dyskinesia and generalized seizures: clinical and genetic analysis in a Spanish pedigreeE Cuenca-Leon, B Cormand, T Thomson, 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.
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.
Neurologia (Barcelona, Spain)|August 30, 2008
[Hyperkalemic periodic paralysis: a Spanish family with the p.Thr704Met mutation in the SCN4A gene]B Narberhaus, B Cormand, E Cuenca-León, et al.
European Journal of Neurology|January 30, 2009
Lack of association of hormone receptor polymorphisms with migraineR Corominas, M Ribasés, E Cuenca-León, 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.
Neurology|September 26, 2001
Adult-onset autosomal recessive ataxia with thalamic lesions in a Finnish familyM Rantamäki, R Krahe, A Paetau, 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.
Scandinavian Audiology. Supplementum|April 25, 2001
Autosomal dominant midfrequency hearing impairmentR Kaksonen, E Widen, B Cormand, et al.
Pageof 5

Showing results (1-10 of 48) with videos related to

Sort By:
Pageof 5
Neuropediatrics|February 7, 2003
Paroxysmal kinesigenic dyskinesia and generalized seizures: clinical and genetic analysis in a Spanish pedigreeE Cuenca-Leon, B Cormand, T Thomson, 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.
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.
Neurologia (Barcelona, Spain)|August 30, 2008
[Hyperkalemic periodic paralysis: a Spanish family with the p.Thr704Met mutation in the SCN4A gene]B Narberhaus, B Cormand, E Cuenca-León, et al.
European Journal of Neurology|January 30, 2009
Lack of association of hormone receptor polymorphisms with migraineR Corominas, M Ribasés, E Cuenca-León, 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.
Neurology|September 26, 2001
Adult-onset autosomal recessive ataxia with thalamic lesions in a Finnish familyM Rantamäki, R Krahe, A Paetau, 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.
Scandinavian Audiology. Supplementum|April 25, 2001
Autosomal dominant midfrequency hearing impairmentR Kaksonen, E Widen, B Cormand, et al.
Pageof 5