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Sigrid W Fouchier

Showing results (11-20 of 21) with videos related to

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Human Mutation|November 19, 2011
Genetic variation in APOB, PCSK9, and ANGPTL3 in carriers of pathogenic autosomal dominant hypercholesterolemic mutations with unexpected low LDL-Cl LevelsRoeland Huijgen, Barbara Sjouke, Kelly Vis, et al.
Journal of Clinical Lipidology|September 1, 2016
Children with hypercholesterolemia of unknown cause: Value of genetic risk scoresBarbara Sjouke, Michael W T Tanck, Sigrid W Fouchier, et al.
European Heart Journal|January 18, 2013
Identification of a loss-of-function inducible degrader of the low-density lipoprotein receptor variant in individuals with low circulating low-density lipoproteinVincenzo Sorrentino, Sigrid W Fouchier, Mohammad M Motazacker, et al.
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.
Circulation|March 9, 2011
Molecular basis of autosomal dominant hypercholesterolemia: assessment in a large cohort of hypercholesterolemic childrenAnouk van der Graaf, Hans J Avis, D Meeike Kusters, et al.
European Heart Journal|March 13, 2012
Advances in genetics show the need for extending screening strategies for autosomal dominant hypercholesterolaemiaMohammad Mahdi Motazacker, James Pirruccello, Roeland Huijgen, et al.
European Heart Journal|March 4, 2014
Homozygous autosomal dominant hypercholesterolaemia in the Netherlands: prevalence, genotype-phenotype relationship, and clinical outcomeBarbara Sjouke, D Meeike Kusters, Iris Kindt, et al.
Arteriosclerosis, Thrombosis, and Vascular Biology|September 28, 2013
Exome sequencing and directed clinical phenotyping diagnose cholesterol ester storage disease presenting as autosomal recessive hypercholesterolemiaNathan O Stitziel, Sigrid W Fouchier, Barbara Sjouke, et al.
Circulation. Cardiovascular Genetics|September 17, 2015
Characterization of Autosomal Dominant Hypercholesterolemia Caused by PCSK9 Gain of Function Mutations and Its Specific Treatment With Alirocumab, a PCSK9 Monoclonal AntibodyPaul N Hopkins, Joep Defesche, Sigrid W Fouchier, et al.
Nature|August 6, 2010
Biological, clinical and population relevance of 95 loci for blood lipidsTanya M Teslovich, Kiran Musunuru, Albert V Smith, et al.
Pageof 3

Showing results (11-20 of 21) with videos related to

Sort By:
Pageof 3
Human Mutation|November 19, 2011
Genetic variation in APOB, PCSK9, and ANGPTL3 in carriers of pathogenic autosomal dominant hypercholesterolemic mutations with unexpected low LDL-Cl LevelsRoeland Huijgen, Barbara Sjouke, Kelly Vis, et al.
Journal of Clinical Lipidology|September 1, 2016
Children with hypercholesterolemia of unknown cause: Value of genetic risk scoresBarbara Sjouke, Michael W T Tanck, Sigrid W Fouchier, et al.
European Heart Journal|January 18, 2013
Identification of a loss-of-function inducible degrader of the low-density lipoprotein receptor variant in individuals with low circulating low-density lipoproteinVincenzo Sorrentino, Sigrid W Fouchier, Mohammad M Motazacker, et al.
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.
Circulation|March 9, 2011
Molecular basis of autosomal dominant hypercholesterolemia: assessment in a large cohort of hypercholesterolemic childrenAnouk van der Graaf, Hans J Avis, D Meeike Kusters, et al.
European Heart Journal|March 13, 2012
Advances in genetics show the need for extending screening strategies for autosomal dominant hypercholesterolaemiaMohammad Mahdi Motazacker, James Pirruccello, Roeland Huijgen, et al.
European Heart Journal|March 4, 2014
Homozygous autosomal dominant hypercholesterolaemia in the Netherlands: prevalence, genotype-phenotype relationship, and clinical outcomeBarbara Sjouke, D Meeike Kusters, Iris Kindt, et al.
Arteriosclerosis, Thrombosis, and Vascular Biology|September 28, 2013
Exome sequencing and directed clinical phenotyping diagnose cholesterol ester storage disease presenting as autosomal recessive hypercholesterolemiaNathan O Stitziel, Sigrid W Fouchier, Barbara Sjouke, et al.
Circulation. Cardiovascular Genetics|September 17, 2015
Characterization of Autosomal Dominant Hypercholesterolemia Caused by PCSK9 Gain of Function Mutations and Its Specific Treatment With Alirocumab, a PCSK9 Monoclonal AntibodyPaul N Hopkins, Joep Defesche, Sigrid W Fouchier, et al.
Nature|August 6, 2010
Biological, clinical and population relevance of 95 loci for blood lipidsTanya M Teslovich, Kiran Musunuru, Albert V Smith, et al.
Pageof 3