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B Cormand

Showing results (21-30 of 48) with videos related to

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American Journal of Human Genetics|January 23, 1999
Assignment of the muscle-eye-brain disease gene to 1p32-p34 by linkage analysis and homozygosity mappingB Cormand, K Avela, H Pihko, et al.
Neurologia (Barcelona, Spain)|June 15, 2005
[Muscle-eye-brain disease. Presentation of one case with genetic study]I Pascual-Castroviejo, S I Pascual-Pascual, M Gutiérrez-Molina, et al.
American Journal of Medical Genetics|December 18, 1998
Mutation analysis of Gaucher disease patients from Argentina: high prevalence of the RecNciI mutationB Cormand, T L Harboe, L Gort, et al.
Cephalalgia : an International Journal of Headache|July 23, 2008
Genetic analysis of 27 Spanish patients with hemiplegic migraine, basilar-type migraine and childhood periodic syndromesE Cuenca-León, R Corominas, N Fernàndez-Castillo, et al.
Journal of Medical Genetics|October 7, 2004
POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain diseaseC Diesen, A Saarinen, H Pihko, et al.
Neuropediatrics|January 24, 2006
Molybdenum cofactor deficiency presenting as neonatal hyperekplexia: a clinical, biochemical and genetic studyA Macaya, L Brunso, N Fernández-Castillo, et al.
Neuromuscular Disorders : NMD|October 29, 2000
Merosin-deficient congenital muscular dystrophy with mental retardation and cerebellar cysts unlinked to the LAMA2, FCMD and MEB lociB Talim, A Ferreiro, B Cormand, et al.
Translational Psychiatry|August 31, 2016
Preliminary evidence for association of genetic variants in pri-miR-34b/c and abnormal miR-34c expression with attention deficit and hyperactivity disorderI Garcia-Martínez, C Sánchez-Mora, M Pagerols, et al.
Journal of Medical Genetics|September 1, 1995
Unusual expression of Gaucher's disease: cardiovascular calcifications in three sibs homozygous for the D409H mutationA Chabás, B Cormand, D Grinberg, et al.
Gut|June 13, 2003
Genetic evidence of heterogeneity in intrahepatic cholestasis of pregnancyM Savander, A Ropponen, K Avela, et al.
Pageof 5

Showing results (21-30 of 48) with videos related to

Sort By:
Pageof 5
American Journal of Human Genetics|January 23, 1999
Assignment of the muscle-eye-brain disease gene to 1p32-p34 by linkage analysis and homozygosity mappingB Cormand, K Avela, H Pihko, et al.
Neurologia (Barcelona, Spain)|June 15, 2005
[Muscle-eye-brain disease. Presentation of one case with genetic study]I Pascual-Castroviejo, S I Pascual-Pascual, M Gutiérrez-Molina, et al.
American Journal of Medical Genetics|December 18, 1998
Mutation analysis of Gaucher disease patients from Argentina: high prevalence of the RecNciI mutationB Cormand, T L Harboe, L Gort, et al.
Cephalalgia : an International Journal of Headache|July 23, 2008
Genetic analysis of 27 Spanish patients with hemiplegic migraine, basilar-type migraine and childhood periodic syndromesE Cuenca-León, R Corominas, N Fernàndez-Castillo, et al.
Journal of Medical Genetics|October 7, 2004
POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain diseaseC Diesen, A Saarinen, H Pihko, et al.
Neuropediatrics|January 24, 2006
Molybdenum cofactor deficiency presenting as neonatal hyperekplexia: a clinical, biochemical and genetic studyA Macaya, L Brunso, N Fernández-Castillo, et al.
Neuromuscular Disorders : NMD|October 29, 2000
Merosin-deficient congenital muscular dystrophy with mental retardation and cerebellar cysts unlinked to the LAMA2, FCMD and MEB lociB Talim, A Ferreiro, B Cormand, et al.
Translational Psychiatry|August 31, 2016
Preliminary evidence for association of genetic variants in pri-miR-34b/c and abnormal miR-34c expression with attention deficit and hyperactivity disorderI Garcia-Martínez, C Sánchez-Mora, M Pagerols, et al.
Journal of Medical Genetics|September 1, 1995
Unusual expression of Gaucher's disease: cardiovascular calcifications in three sibs homozygous for the D409H mutationA Chabás, B Cormand, D Grinberg, et al.
Gut|June 13, 2003
Genetic evidence of heterogeneity in intrahepatic cholestasis of pregnancyM Savander, A Ropponen, K Avela, et al.
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