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Joep C Defesche

Showing results (61-70 of 96) with videos related to

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Annals of Internal Medicine|May 7, 2008
Familial defective apolipoprotein B and familial hypobetalipoproteinemia in one family: two neutralizing mutationsAnouk van der Graaf, Sigrid W Fouchier, Maud N Vissers, et al.
The Journal of Molecular Diagnostics : JMD|March 30, 2013
A DNA microarray for the detection of point mutations and copy number variation causing familial hypercholesterolemia in EuropeMarianne A Stef, Lourdes Palacios, Estibaliz Olano-Martín, et al.
The American Journal of Cardiology|November 26, 2008
Longitudinal evaluation and assessment of cardiovascular disease in patients with homozygous familial hypercholesterolemiaDaniel M Kolansky, Marina Cuchel, Bernard J Clark, et al.
Human Mutation|September 9, 2011
High prevalence of mutations in LCAT in patients with low HDL cholesterol levels in The Netherlands: identification and characterization of eight novel mutationsAdriaan G Holleboom, Jan A Kuivenhoven, Frank Peelman, et al.
European Heart Journal|July 11, 2006
Diagnosing familial hypercholesterolaemia: the relevance of genetic testingEmily S van Aalst-Cohen, Angelique C M Jansen, Michael W T Tanck, et al.
European Heart Journal|April 17, 2008
Gene-load score of the renin-angiotensin-aldosterone system is associated with coronary heart disease in familial hypercholesterolaemiaJeroen B van der Net, Jeroen van Etten, Mojgan Yazdanpanah, et al.
Journal of Clinical Lipidology|May 16, 2017
Plasma lipoprotein(a) levels in patients with homozygous autosomal dominant hypercholesterolemiaBarbara Sjouke, Reyhana Yahya, Michael W T Tanck, et al.
The Journal of Clinical Endocrinology and Metabolism|July 20, 2006
A functional polymorphism in the glucocorticoid receptor gene and its relation to cardiovascular disease risk in familial hypercholesterolemiaKristel C M C Koeijvoets, Elisabeth F C van Rossum, Geesje M Dallinga-Thie, et al.
Clinical Genetics|July 5, 2022
Establishing the relationship between familial dysbetalipoproteinemia and genetic variants in the APOE geneBritt E Heidemann, Charlotte Koopal, Alexis Baass, et al.
Atherosclerosis|February 18, 2021
Intronic variant screening with targeted next-generation sequencing reveals first pseudoexon in LDLR in familial hypercholesterolemiaLaurens F Reeskamp, Manon Balvers, Jorge Peter, et al.
Pageof 10

Showing results (61-70 of 96) with videos related to

Sort By:
Pageof 10
Annals of Internal Medicine|May 7, 2008
Familial defective apolipoprotein B and familial hypobetalipoproteinemia in one family: two neutralizing mutationsAnouk van der Graaf, Sigrid W Fouchier, Maud N Vissers, et al.
The Journal of Molecular Diagnostics : JMD|March 30, 2013
A DNA microarray for the detection of point mutations and copy number variation causing familial hypercholesterolemia in EuropeMarianne A Stef, Lourdes Palacios, Estibaliz Olano-Martín, et al.
The American Journal of Cardiology|November 26, 2008
Longitudinal evaluation and assessment of cardiovascular disease in patients with homozygous familial hypercholesterolemiaDaniel M Kolansky, Marina Cuchel, Bernard J Clark, et al.
Human Mutation|September 9, 2011
High prevalence of mutations in LCAT in patients with low HDL cholesterol levels in The Netherlands: identification and characterization of eight novel mutationsAdriaan G Holleboom, Jan A Kuivenhoven, Frank Peelman, et al.
European Heart Journal|July 11, 2006
Diagnosing familial hypercholesterolaemia: the relevance of genetic testingEmily S van Aalst-Cohen, Angelique C M Jansen, Michael W T Tanck, et al.
European Heart Journal|April 17, 2008
Gene-load score of the renin-angiotensin-aldosterone system is associated with coronary heart disease in familial hypercholesterolaemiaJeroen B van der Net, Jeroen van Etten, Mojgan Yazdanpanah, et al.
Journal of Clinical Lipidology|May 16, 2017
Plasma lipoprotein(a) levels in patients with homozygous autosomal dominant hypercholesterolemiaBarbara Sjouke, Reyhana Yahya, Michael W T Tanck, et al.
The Journal of Clinical Endocrinology and Metabolism|July 20, 2006
A functional polymorphism in the glucocorticoid receptor gene and its relation to cardiovascular disease risk in familial hypercholesterolemiaKristel C M C Koeijvoets, Elisabeth F C van Rossum, Geesje M Dallinga-Thie, et al.
Clinical Genetics|July 5, 2022
Establishing the relationship between familial dysbetalipoproteinemia and genetic variants in the APOE geneBritt E Heidemann, Charlotte Koopal, Alexis Baass, et al.
Atherosclerosis|February 18, 2021
Intronic variant screening with targeted next-generation sequencing reveals first pseudoexon in LDLR in familial hypercholesterolemiaLaurens F Reeskamp, Manon Balvers, Jorge Peter, et al.
Pageof 10