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Journal of Medical Genetics|November 22, 2014
Current novel-gene-finding strategy for autosomal-dominant hypercholesterolaemia needs refinementSigrid W Fouchier, Barbara A Hutten, Joep C DefescheCurrent Opinion in Lipidology|May 9, 2013
Lysosomal acid lipase A and the hypercholesterolaemic phenotypeSigrid W Fouchier, Joep C DefescheHuman Mutation|May 28, 2010
Functionality of sequence variants in the genes coding for the low-density lipoprotein receptor and apolipoprotein B in individuals with inherited hypercholesterolemiaRoeland Huijgen, Iris Kindt, Sigrid W Fouchier, et al.Human Mutation|October 27, 2005
Update of the molecular basis of familial hypercholesterolemia in The NetherlandsSigrid W Fouchier, John J P Kastelein, Joep C DefescheEuropean Journal of Human Genetics : EJHG|September 29, 2005
Management of hereditary dyslipidaemia; the paradigm of autosomal dominant hypercholesterolaemiaSigrid W Fouchier, Jessica Rodenburg, Joep C Defesche, 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.Seminars in Vascular Medicine|January 5, 2005
Familial defective apolipoprotein B versus familial hypercholesterolemia: an assessment of riskSigrid W Fouchier, Joep C Defesche, John J P Kastelein, et al.Atherosclerosis|July 18, 2016
Sequencing for LIPA mutations in patients with a clinical diagnosis of familial hypercholesterolemiaBarbara Sjouke, Joep C Defesche, Janine S E de Randamie, et al.JAMA|March 11, 2015
Association between familial hypercholesterolemia and prevalence of type 2 diabetes mellitusJoost Besseling, John J P Kastelein, Joep C Defesche, 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.Pageof 25