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American Journal of Human Genetics
|
September 1, 1993
A rare disease-associated mutation in the medium-chain acyl-CoA dehydrogenase (MCAD) gene changes a conserved arginine, previously shown to be functionally essential in short-chain acyl-CoA dehydrogenase (SCAD)
B S Andresen, P Bross, T G Jensen, et al.
Clinical Genetics
|
July 1, 1995
Complexity of molecular genetics of dyslipidemia in a family highly susceptible to ischemic heart disease
H K Jensen, P S Hansen, L G Jensen, et al.
Clinical Genetics
|
February 11, 2000
Normolipidemia and hypercholesterolemia in persons heterozygous for the same 1592 + 5G --> A splice site mutation in the low-density lipoprotein receptor gene
H K Jensen, L G Jensen, H U Holst, et al.
The Journal of Clinical Endocrinology and Metabolism
|
August 12, 1999
Clinical and molecular evidence of abnormal processing and trafficking of the vasopressin preprohormone in a large kindred with familial neurohypophyseal diabetes insipidus due to a signal peptide mutation
C Siggaard, S Rittig, T J Corydon, et al.
Human Mutation
|
January 1, 1994
Characterization of a disease-causing Glu119-Lys mutation in the low-density lipoprotein receptor gene in two Danish families with heterozygous familial hypercholesterolemia
H K Jensen, T G Jensen, L G Jensen, et al.
American Journal of Human Genetics
|
June 1, 1994
Disease-causing mutations in exon 11 of the medium-chain acyl-CoA dehydrogenase gene
B S Andresen, T G Jensen, P Bross, et al.
Genomics
|
April 7, 1999
Localization of a human nucleoporin 155 gene (NUP155) to the 5p13 region and cloning of its cDNA
X Zhang, H Yang, M J Corydon, et al.
The Journal of Investigative Dermatology
|
May 12, 2001
Modulation of keratinocyte gene expression and differentiation by PPAR-selective ligands and tetradecylthioacetic acid
M Westergaard, J Henningsen, M L Svendsen, et al.
Human Mutation
|
January 1, 1997
Two mutations in the same low-density lipoprotein receptor allele act in synergy to reduce receptor function in heterozygous familial hypercholesterolemia
H K Jensen, T G Jensen, O Faergeman, et al.
The Journal of Biological Chemistry
|
December 13, 1996
Influence of Lewis alpha1-3/4-L-fucosyltransferase (FUT3) gene mutations on enzyme activity, erythrocyte phenotyping, and circulating tumor marker sialyl-Lewis a levels
T F Orntoft, E M Vestergaard, E Holmes, et al.
Page
of 15
Search research articles
Search
Showing results (121-130 of 146) with videos related to
Sort By:
Page
of 15
American Journal of Human Genetics
|
September 1, 1993
A rare disease-associated mutation in the medium-chain acyl-CoA dehydrogenase (MCAD) gene changes a conserved arginine, previously shown to be functionally essential in short-chain acyl-CoA dehydrogenase (SCAD)
B S Andresen, P Bross, T G Jensen, et al.
Clinical Genetics
|
July 1, 1995
Complexity of molecular genetics of dyslipidemia in a family highly susceptible to ischemic heart disease
H K Jensen, P S Hansen, L G Jensen, et al.
Clinical Genetics
|
February 11, 2000
Normolipidemia and hypercholesterolemia in persons heterozygous for the same 1592 + 5G --> A splice site mutation in the low-density lipoprotein receptor gene
H K Jensen, L G Jensen, H U Holst, et al.
The Journal of Clinical Endocrinology and Metabolism
|
August 12, 1999
Clinical and molecular evidence of abnormal processing and trafficking of the vasopressin preprohormone in a large kindred with familial neurohypophyseal diabetes insipidus due to a signal peptide mutation
C Siggaard, S Rittig, T J Corydon, et al.
Human Mutation
|
January 1, 1994
Characterization of a disease-causing Glu119-Lys mutation in the low-density lipoprotein receptor gene in two Danish families with heterozygous familial hypercholesterolemia
H K Jensen, T G Jensen, L G Jensen, et al.
American Journal of Human Genetics
|
June 1, 1994
Disease-causing mutations in exon 11 of the medium-chain acyl-CoA dehydrogenase gene
B S Andresen, T G Jensen, P Bross, et al.
Genomics
|
April 7, 1999
Localization of a human nucleoporin 155 gene (NUP155) to the 5p13 region and cloning of its cDNA
X Zhang, H Yang, M J Corydon, et al.
The Journal of Investigative Dermatology
|
May 12, 2001
Modulation of keratinocyte gene expression and differentiation by PPAR-selective ligands and tetradecylthioacetic acid
M Westergaard, J Henningsen, M L Svendsen, et al.
Human Mutation
|
January 1, 1997
Two mutations in the same low-density lipoprotein receptor allele act in synergy to reduce receptor function in heterozygous familial hypercholesterolemia
H K Jensen, T G Jensen, O Faergeman, et al.
The Journal of Biological Chemistry
|
December 13, 1996
Influence of Lewis alpha1-3/4-L-fucosyltransferase (FUT3) gene mutations on enzyme activity, erythrocyte phenotyping, and circulating tumor marker sialyl-Lewis a levels
T F Orntoft, E M Vestergaard, E Holmes, et al.
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of 15