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N Gregersen

Showing results (201-210 of 208) with videos related to

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Journal of Inherited Metabolic Disease|August 15, 2006
Persistent increase of plasma butyryl/isobutyrylcarnitine concentrations as marker of SCAD defect and ethylmalonic encephalopathyB Merinero, C Pérez-Cerdá, P Ruiz Sala, et al.
Pediatric Research|June 1, 1996
Ethylmalonic aciduria is associated with an amino acid variant of short chain acyl-coenzyme A dehydrogenaseM J Corydon, N Gregersen, W Lehnert, et al.
Atherosclerosis|May 1, 1997
A common W556S mutation in the LDL receptor gene of Danish patients with familial hypercholesterolemia encodes a transport-defective proteinH K Jensen, H Holst, L G Jensen, et al.
Pediatric Research|January 3, 2001
Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiencyM J Corydon, J Vockley, P Rinaldo, et al.
Pediatric Research|February 1, 1997
A survey of the newborn populations in Belgium, Germany, Poland, Czech Republic, Hungary, Bulgaria, Spain, Turkey, and Japan for the G985 variant allele with haplotype analysis at the medium chain Acyl-CoA dehydrogenase gene locus: clinical and evolutionary considerationK Tanaka, N Gregersen, A Ribes, et al.
Human Molecular Genetics|May 1, 1997
The molecular basis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in compound heterozygous patients: is there correlation between genotype and phenotype?B S Andresen, P Bross, S Udvari, et al.
American Journal of Human Genetics|February 11, 1999
Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiencyB S Andresen, S Olpin, B J Poorthuis, et al.
Human Molecular Genetics|May 16, 1998
Identification of four new mutations in the short-chain acyl-CoA dehydrogenase (SCAD) gene in two patients: one of the variant alleles, 511C-->T, is present at an unexpectedly high frequency in the general population, as was the case for 625G-->A, together conferring susceptibility to ethylmalonic aciduriaN Gregersen, V S Winter, M J Corydon, et al.
Pageof 21

Showing results (201-210 of 208) with videos related to

Sort By:
Pageof 21
You have reached the last page of results.This site can display upto 208 results.
Journal of Inherited Metabolic Disease|August 15, 2006
Persistent increase of plasma butyryl/isobutyrylcarnitine concentrations as marker of SCAD defect and ethylmalonic encephalopathyB Merinero, C Pérez-Cerdá, P Ruiz Sala, et al.
Pediatric Research|June 1, 1996
Ethylmalonic aciduria is associated with an amino acid variant of short chain acyl-coenzyme A dehydrogenaseM J Corydon, N Gregersen, W Lehnert, et al.
Atherosclerosis|May 1, 1997
A common W556S mutation in the LDL receptor gene of Danish patients with familial hypercholesterolemia encodes a transport-defective proteinH K Jensen, H Holst, L G Jensen, et al.
Pediatric Research|January 3, 2001
Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiencyM J Corydon, J Vockley, P Rinaldo, et al.
Pediatric Research|February 1, 1997
A survey of the newborn populations in Belgium, Germany, Poland, Czech Republic, Hungary, Bulgaria, Spain, Turkey, and Japan for the G985 variant allele with haplotype analysis at the medium chain Acyl-CoA dehydrogenase gene locus: clinical and evolutionary considerationK Tanaka, N Gregersen, A Ribes, et al.
Human Molecular Genetics|May 1, 1997
The molecular basis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in compound heterozygous patients: is there correlation between genotype and phenotype?B S Andresen, P Bross, S Udvari, et al.
American Journal of Human Genetics|February 11, 1999
Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiencyB S Andresen, S Olpin, B J Poorthuis, et al.
Human Molecular Genetics|May 16, 1998
Identification of four new mutations in the short-chain acyl-CoA dehydrogenase (SCAD) gene in two patients: one of the variant alleles, 511C-->T, is present at an unexpectedly high frequency in the general population, as was the case for 625G-->A, together conferring susceptibility to ethylmalonic aciduriaN Gregersen, V S Winter, M J Corydon, et al.
Pageof 21