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H Wiebusch

Showing results (11-20 of 68) with videos related to

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Atherosclerosis|January 3, 1997
The replacement of arginine by cysteine at residue 151 in apolipoprotein A-I produces a phenotype similar to that of apolipoprotein A-IMilanoE Bruckert, A von Eckardstein, H Funke, et al.
Journal of Lipid Research|April 29, 2000
Two novel mutations in the lipoprotein lipase gene in a family with marked hypertriglyceridemia in heterozygous carriers. Potential interaction with the polymorphic marker D1S104 on chromosome 1q21-q23B Hölzl, H G Kraft, H Wiebusch, et al.
European Journal of Pediatrics|February 1, 1997
Marked changes of lipid levels during puberty in a patient with lipoprotein lipase deficiencyH Bucher, S Rampini, R W James, et al.
Lancet (London, England)|September 9, 1995
Genetically determined absence of HDL-cholesterol and coronary atherosclerosisR Navalesi, R Miccoli, L Odoguardi, et al.
Clinical Genetics|August 1, 1996
A novel missense mutation (Gly2Arg) in the human lysosomal acid lipase gene is found in individuals with and without cholesterol ester storage disease (CESD)H Wiebusch, S Muntoni, H Funke, et al.
Human Mutation|January 1, 1996
Compound heterozygosity for a known (D250N) and a novel (E410K) missense mutation in the C-terminal domain of lipoprotein lipase causes familial chylomicronemiaH Wiebusch, H Funke, T Bruin, et al.
Human Molecular Genetics|January 1, 1995
Deficiency of lecithin:cholesterol acyltransferase due to compound heterozygosity of two novel mutations (Gly33Arg and 30 bp ins) in the LCAT geneH Wiebusch, P Cullen, J S Owen, et al.
Human Mutation|January 1, 1996
Complete deficiency of plasma lecithin-cholesterol acyltransferase (LCAT) activity due to a novel homozygous mutation (Gly-30-Ser) in the LCAT geneJ S Owen, H Wiebusch, P Cullen, et al.
Journal of Molecular Medicine (Berlin, Germany)|July 1, 1995
Electrophoretic screening for human apolipoprotein C-II variants: repeated identification of apolipoprotein C-II(K19T)H Wiebusch, J R Nofer, A von Eckardstein, et al.
Human Genetics|August 1, 1995
Screening for naturally occurring apolipoprotein A-I variants: apo A-I(delta K107) is associated with low HDL-cholesterol levels in men but not in womenJ R Nofer, A von Eckardstein, H Wiebusch, et al.
Pageof 7

Showing results (11-20 of 68) with videos related to

Sort By:
Pageof 7
Atherosclerosis|January 3, 1997
The replacement of arginine by cysteine at residue 151 in apolipoprotein A-I produces a phenotype similar to that of apolipoprotein A-IMilanoE Bruckert, A von Eckardstein, H Funke, et al.
Journal of Lipid Research|April 29, 2000
Two novel mutations in the lipoprotein lipase gene in a family with marked hypertriglyceridemia in heterozygous carriers. Potential interaction with the polymorphic marker D1S104 on chromosome 1q21-q23B Hölzl, H G Kraft, H Wiebusch, et al.
European Journal of Pediatrics|February 1, 1997
Marked changes of lipid levels during puberty in a patient with lipoprotein lipase deficiencyH Bucher, S Rampini, R W James, et al.
Lancet (London, England)|September 9, 1995
Genetically determined absence of HDL-cholesterol and coronary atherosclerosisR Navalesi, R Miccoli, L Odoguardi, et al.
Clinical Genetics|August 1, 1996
A novel missense mutation (Gly2Arg) in the human lysosomal acid lipase gene is found in individuals with and without cholesterol ester storage disease (CESD)H Wiebusch, S Muntoni, H Funke, et al.
Human Mutation|January 1, 1996
Compound heterozygosity for a known (D250N) and a novel (E410K) missense mutation in the C-terminal domain of lipoprotein lipase causes familial chylomicronemiaH Wiebusch, H Funke, T Bruin, et al.
Human Molecular Genetics|January 1, 1995
Deficiency of lecithin:cholesterol acyltransferase due to compound heterozygosity of two novel mutations (Gly33Arg and 30 bp ins) in the LCAT geneH Wiebusch, P Cullen, J S Owen, et al.
Human Mutation|January 1, 1996
Complete deficiency of plasma lecithin-cholesterol acyltransferase (LCAT) activity due to a novel homozygous mutation (Gly-30-Ser) in the LCAT geneJ S Owen, H Wiebusch, P Cullen, et al.
Journal of Molecular Medicine (Berlin, Germany)|July 1, 1995
Electrophoretic screening for human apolipoprotein C-II variants: repeated identification of apolipoprotein C-II(K19T)H Wiebusch, J R Nofer, A von Eckardstein, et al.
Human Genetics|August 1, 1995
Screening for naturally occurring apolipoprotein A-I variants: apo A-I(delta K107) is associated with low HDL-cholesterol levels in men but not in womenJ R Nofer, A von Eckardstein, H Wiebusch, et al.
Pageof 7