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S Andresen

Showing results (61-70 of 249) with videos related to

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Molecular Genetics and Metabolism|June 3, 2004
Homozygosity for a severe novel medium-chain acyl-CoA dehydrogenase (MCAD) mutation IVS3-1G > C that leads to introduction of a premature termination codon by complete missplicing of the MCAD mRNA and is associated with phenotypic diversity ranging from sudden neonatal death to asymptomatic statusStanley H Korman, Alisa Gutman, Rivka Brooks, et al.
Glycobiology|August 28, 1998
Differentiation-associated modulation of heparan sulfate structure and function in CaCo-2 colon carcinoma cellsM Salmivirta, F Safaiyan, K Prydz, et al.
Human Mutation|June 20, 2003
Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiencyRikke K J Olsen, Brage S Andresen, Ernst Christensen, et al.
Human Mutation|September 8, 1999
Protein misfolding and degradation in genetic diseasesP Bross, T J Corydon, B S Andresen, et al.
Laryngoscope Investigative Otolaryngology|August 17, 2021
Predictive value of the Eustachian Tube Dysfunction Questionnaire-7 for identifying obstructive Eustachian tube dysfunction: A systematic reviewNicholas S Andresen, Jeffrey D Sharon, Carrie L Nieman, et al.
Journal of Inherited Metabolic Disease|January 1, 1994
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency due to heterozygosity for the common mutation and an allele resulting in low levels of MCAD mRNAB S Andresen, P Bross, I Knudsen, et al.
Clinical Chemistry|December 24, 2004
2-ethylhydracrylic aciduria in short/branched-chain acyl-CoA dehydrogenase deficiency: application to diagnosis and implications for the R-pathway of isoleucine oxidationStanley H Korman, Brage S Andresen, Avraham Zeharia, et al.
The Biochemical Journal|October 21, 1999
Sulphation of lithocholic acid in the colon-carcinoma cell line CaCo-2B Halvorsen, B F Kase, K Prydz, et al.
Molecular Genetics and Metabolism|November 18, 2005
Medium-chain acyl-CoA dehydrogenase deficiency: genotype-biochemical phenotype correlationsLeigh Waddell, Veronica Wiley, Kevin Carpenter, et al.
Human Mutation|February 2, 2010
The deep intronic c.903+469T>C mutation in the MTRR gene creates an SF2/ASF binding exonic splicing enhancer, which leads to pseudoexon activation and causes the cblE type of homocystinuriaKaterina Homolova, Petra Zavadakova, Thomas Koed Doktor, et al.
Pageof 25

Showing results (61-70 of 249) with videos related to

Sort By:
Pageof 25
Molecular Genetics and Metabolism|June 3, 2004
Homozygosity for a severe novel medium-chain acyl-CoA dehydrogenase (MCAD) mutation IVS3-1G > C that leads to introduction of a premature termination codon by complete missplicing of the MCAD mRNA and is associated with phenotypic diversity ranging from sudden neonatal death to asymptomatic statusStanley H Korman, Alisa Gutman, Rivka Brooks, et al.
Glycobiology|August 28, 1998
Differentiation-associated modulation of heparan sulfate structure and function in CaCo-2 colon carcinoma cellsM Salmivirta, F Safaiyan, K Prydz, et al.
Human Mutation|June 20, 2003
Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiencyRikke K J Olsen, Brage S Andresen, Ernst Christensen, et al.
Human Mutation|September 8, 1999
Protein misfolding and degradation in genetic diseasesP Bross, T J Corydon, B S Andresen, et al.
Laryngoscope Investigative Otolaryngology|August 17, 2021
Predictive value of the Eustachian Tube Dysfunction Questionnaire-7 for identifying obstructive Eustachian tube dysfunction: A systematic reviewNicholas S Andresen, Jeffrey D Sharon, Carrie L Nieman, et al.
Journal of Inherited Metabolic Disease|January 1, 1994
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency due to heterozygosity for the common mutation and an allele resulting in low levels of MCAD mRNAB S Andresen, P Bross, I Knudsen, et al.
Clinical Chemistry|December 24, 2004
2-ethylhydracrylic aciduria in short/branched-chain acyl-CoA dehydrogenase deficiency: application to diagnosis and implications for the R-pathway of isoleucine oxidationStanley H Korman, Brage S Andresen, Avraham Zeharia, et al.
The Biochemical Journal|October 21, 1999
Sulphation of lithocholic acid in the colon-carcinoma cell line CaCo-2B Halvorsen, B F Kase, K Prydz, et al.
Molecular Genetics and Metabolism|November 18, 2005
Medium-chain acyl-CoA dehydrogenase deficiency: genotype-biochemical phenotype correlationsLeigh Waddell, Veronica Wiley, Kevin Carpenter, et al.
Human Mutation|February 2, 2010
The deep intronic c.903+469T>C mutation in the MTRR gene creates an SF2/ASF binding exonic splicing enhancer, which leads to pseudoexon activation and causes the cblE type of homocystinuriaKaterina Homolova, Petra Zavadakova, Thomas Koed Doktor, et al.
Pageof 25