Search research articles
Contact Us
Filters
Showing results (181-190 of 208) with videos related to
Page
of 21
Sort By:
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.
Molecular Genetics and Metabolism
|
June 5, 1999
A polymorphic variant in the human electron transfer flavoprotein alpha-chain (alpha-T171) displays decreased thermal stability and is overrepresented in very-long-chain acyl-CoA dehydrogenase-deficient patients with mild childhood presentation
P Bross, P Pedersen, V Winter, 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.
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.
Journal of Inherited Metabolic Disease
|
October 13, 1999
Adolescent myopathic presentation in two sisters with very long-chain acyl-CoA dehydrogenase deficiency
B Merinero, S I Pascual Pascual, C Pérez-Cerdá, et al.
Neuropediatrics
|
August 23, 2007
Ethylmalonic encephalopathy: clinical and biochemical observations
D I Zafeiriou, P Augoustides-Savvopoulou, D Haas, 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.
Neuromuscular Disorders : NMD
|
July 17, 1999
Myopathy in very-long-chain acyl-CoA dehydrogenase deficiency: clinical and biochemical differences with the fatal cardiac phenotype
H R Scholte, R N Van Coster, P C de Jonge, 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.
JIMD Reports
|
February 23, 2013
Relevance of expanded neonatal screening of medium-chain acyl co-a dehydrogenase deficiency: outcome of a decade in galicia (Spain)
M L Couce, D E Castiñeiras, J D Moure, et al.
Page
of 21
Search research articles
Search
Showing results (181-190 of 208) with videos related to
Sort By:
Page
of 21
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.
Molecular Genetics and Metabolism
|
June 5, 1999
A polymorphic variant in the human electron transfer flavoprotein alpha-chain (alpha-T171) displays decreased thermal stability and is overrepresented in very-long-chain acyl-CoA dehydrogenase-deficient patients with mild childhood presentation
P Bross, P Pedersen, V Winter, 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.
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.
Journal of Inherited Metabolic Disease
|
October 13, 1999
Adolescent myopathic presentation in two sisters with very long-chain acyl-CoA dehydrogenase deficiency
B Merinero, S I Pascual Pascual, C Pérez-Cerdá, et al.
Neuropediatrics
|
August 23, 2007
Ethylmalonic encephalopathy: clinical and biochemical observations
D I Zafeiriou, P Augoustides-Savvopoulou, D Haas, 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.
Neuromuscular Disorders : NMD
|
July 17, 1999
Myopathy in very-long-chain acyl-CoA dehydrogenase deficiency: clinical and biochemical differences with the fatal cardiac phenotype
H R Scholte, R N Van Coster, P C de Jonge, 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.
JIMD Reports
|
February 23, 2013
Relevance of expanded neonatal screening of medium-chain acyl co-a dehydrogenase deficiency: outcome of a decade in galicia (Spain)
M L Couce, D E Castiñeiras, J D Moure, et al.
Page
of 21