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N Gregersen

Showing results (191-200 of 208) with videos related to

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Zeitschrift Fur Gastroenterologie|June 1, 1996
Rapid characterization of disease-causing mutations in the low density lipoprotein receptor (LDL-R) gene by overexpression in COS cellsT G Jensen, B S Andresen, H K Jensen, et al.
American Journal of Human Genetics|October 3, 2000
Isolated 2-methylbutyrylglycinuria caused by short/branched-chain acyl-CoA dehydrogenase deficiency: identification of a new enzyme defect, resolution of its molecular basis, and evidence for distinct acyl-CoA dehydrogenases in isoleucine and valine metabolismB S Andresen, E Christensen, T J Corydon, et al.
Journal of Inherited Metabolic Disease|June 29, 1999
DNA-based prenatal diagnosis for very-long-chain acyl-CoA dehydrogenase deficiencyB S Andresen, S Olpin, E A Kvittingen, et al.
Ugeskrift for Laeger|April 15, 2000
[Epidermolysis bullosa simplex: genotype-phenotype correlation in Danish patients]C B Sørensen, A S Ladekjaer-Mikkelsen, B S Andresen, et al.
The Journal of Investigative Dermatology|February 16, 1999
Identification of novel and known mutations in the genes for keratin 5 and 14 in Danish patients with epidermolysis bullosa simplex: correlation between genotype and phenotypeC B Sørensen, A S Ladekjaer-Mikkelsen, B S Andresen, et al.
Journal of Inherited Metabolic Disease|July 23, 2003
Recurrent vomiting and ethylmalonic aciduria associated with rare mutations of the short-chain acyl-CoA dehydrogenase geneJ Seidel, S Streck, K Bellstedt, et al.
American Journal of Human Genetics|May 12, 2001
Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that results in mild MCAD deficiencyB S Andresen, S F Dobrowolski, L O'Reilly, et al.
Journal of Medical Genetics|January 20, 2004
Clinical and genetic characteristics of alpha cardiac actin gene mutations in hypertrophic cardiomyopathyJ Mogensen, A Perrot, P S Andersen, et al.
Human Molecular Genetics|April 1, 1996
Cloning and characterization of human very-long-chain acyl-CoA dehydrogenase cDNA, chromosomal assignment of the gene and identification in four patients of nine different mutations within the VLCAD geneB S Andresen, P Bross, C Vianey-Saban, et al.
Journal of Inherited Metabolic Disease|May 20, 2005
Biochemical, clinical and molecular findings in LCHAD and general mitochondrial trifunctional protein deficiencyS E Olpin, S Clark, B S Andresen, et al.
Pageof 21

Showing results (191-200 of 208) with videos related to

Sort By:
Pageof 21
Zeitschrift Fur Gastroenterologie|June 1, 1996
Rapid characterization of disease-causing mutations in the low density lipoprotein receptor (LDL-R) gene by overexpression in COS cellsT G Jensen, B S Andresen, H K Jensen, et al.
American Journal of Human Genetics|October 3, 2000
Isolated 2-methylbutyrylglycinuria caused by short/branched-chain acyl-CoA dehydrogenase deficiency: identification of a new enzyme defect, resolution of its molecular basis, and evidence for distinct acyl-CoA dehydrogenases in isoleucine and valine metabolismB S Andresen, E Christensen, T J Corydon, et al.
Journal of Inherited Metabolic Disease|June 29, 1999
DNA-based prenatal diagnosis for very-long-chain acyl-CoA dehydrogenase deficiencyB S Andresen, S Olpin, E A Kvittingen, et al.
Ugeskrift for Laeger|April 15, 2000
[Epidermolysis bullosa simplex: genotype-phenotype correlation in Danish patients]C B Sørensen, A S Ladekjaer-Mikkelsen, B S Andresen, et al.
The Journal of Investigative Dermatology|February 16, 1999
Identification of novel and known mutations in the genes for keratin 5 and 14 in Danish patients with epidermolysis bullosa simplex: correlation between genotype and phenotypeC B Sørensen, A S Ladekjaer-Mikkelsen, B S Andresen, et al.
Journal of Inherited Metabolic Disease|July 23, 2003
Recurrent vomiting and ethylmalonic aciduria associated with rare mutations of the short-chain acyl-CoA dehydrogenase geneJ Seidel, S Streck, K Bellstedt, et al.
American Journal of Human Genetics|May 12, 2001
Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that results in mild MCAD deficiencyB S Andresen, S F Dobrowolski, L O'Reilly, et al.
Journal of Medical Genetics|January 20, 2004
Clinical and genetic characteristics of alpha cardiac actin gene mutations in hypertrophic cardiomyopathyJ Mogensen, A Perrot, P S Andersen, et al.
Human Molecular Genetics|April 1, 1996
Cloning and characterization of human very-long-chain acyl-CoA dehydrogenase cDNA, chromosomal assignment of the gene and identification in four patients of nine different mutations within the VLCAD geneB S Andresen, P Bross, C Vianey-Saban, et al.
Journal of Inherited Metabolic Disease|May 20, 2005
Biochemical, clinical and molecular findings in LCHAD and general mitochondrial trifunctional protein deficiencyS E Olpin, S Clark, B S Andresen, et al.
Pageof 21