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S Andresen

Showing results (151-160 of 227) with videos related to

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Prenatal Diagnosis|January 22, 2005
DNA-based prenatal diagnosis for severe and variant forms of multiple acyl-CoA dehydrogenation deficiencyRikke K J Olsen, Brage S Andresen, Ernst Christensen, et al.
Genome Research|November 23, 2007
Features of 5'-splice-site efficiency derived from disease-causing mutations and comparative genomicsXavier Roca, Andrew J Olson, Atmakuri R Rao, et al.
Journal of Medical Screening|December 15, 2011
Newborn screening for medium chain acyl-CoA dehydrogenase deficiency in England: prevalence, predictive value and test validity based on 1.5 million screened babiesJuliet Oerton, Javaria M Khalid, Guy Besley, et al.
Audiology & Neuro-Otology|April 27, 2026
Audiometric Outcomes and Longitudinal Trends of Sequential Cochlear Implantation in Adults with Bilateral Deafness: A 20-Year Single-Center StudySarek A Shen, Zahra N Sayyid, Nicholas S Andresen, 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 presentationP 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 mutationC 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 hypercholesterolemiaH K Jensen, T G Jensen, L G Jensen, et al.
Molecular Genetics and Metabolism|November 11, 2017
An intronic variation in SLC52A1 causes exon skipping and transient riboflavin-responsive multiple acyl-CoA dehydrogenation deficiencySigne Mosegaard, Gitte Hoffmann Bruun, Karen Freund Flyvbjerg, et al.
Scientific Reports|September 28, 2017
Minimal Holocene retreat of large tidewater glaciers in Køge Bugt, southeast GreenlandLaurence M Dyke, Camilla S Andresen, Marit-Solveig Seidenkrantz, et al.
Journal of Medical Screening|October 18, 2008
Ethnicity of children with homozygous c.985A>G medium-chain acyl-CoA dehydrogenase deficiency: findings from screening approximately 1.1 million newborn infantsJ M Khalid, J Oerton, M Cortina-Borja, et al.
Pageof 23

Showing results (151-160 of 227) with videos related to

Sort By:
Pageof 23
Prenatal Diagnosis|January 22, 2005
DNA-based prenatal diagnosis for severe and variant forms of multiple acyl-CoA dehydrogenation deficiencyRikke K J Olsen, Brage S Andresen, Ernst Christensen, et al.
Genome Research|November 23, 2007
Features of 5'-splice-site efficiency derived from disease-causing mutations and comparative genomicsXavier Roca, Andrew J Olson, Atmakuri R Rao, et al.
Journal of Medical Screening|December 15, 2011
Newborn screening for medium chain acyl-CoA dehydrogenase deficiency in England: prevalence, predictive value and test validity based on 1.5 million screened babiesJuliet Oerton, Javaria M Khalid, Guy Besley, et al.
Audiology & Neuro-Otology|April 27, 2026
Audiometric Outcomes and Longitudinal Trends of Sequential Cochlear Implantation in Adults with Bilateral Deafness: A 20-Year Single-Center StudySarek A Shen, Zahra N Sayyid, Nicholas S Andresen, 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 presentationP 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 mutationC 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 hypercholesterolemiaH K Jensen, T G Jensen, L G Jensen, et al.
Molecular Genetics and Metabolism|November 11, 2017
An intronic variation in SLC52A1 causes exon skipping and transient riboflavin-responsive multiple acyl-CoA dehydrogenation deficiencySigne Mosegaard, Gitte Hoffmann Bruun, Karen Freund Flyvbjerg, et al.
Scientific Reports|September 28, 2017
Minimal Holocene retreat of large tidewater glaciers in Køge Bugt, southeast GreenlandLaurence M Dyke, Camilla S Andresen, Marit-Solveig Seidenkrantz, et al.
Journal of Medical Screening|October 18, 2008
Ethnicity of children with homozygous c.985A>G medium-chain acyl-CoA dehydrogenase deficiency: findings from screening approximately 1.1 million newborn infantsJ M Khalid, J Oerton, M Cortina-Borja, et al.
Pageof 23