Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Defesche

Showing results (51-60 of 178) with videos related to

Pageof 18
Sort By:
Seminars in Vascular Medicine|June 17, 2004
Advanced method for the identification of patients with inherited hypercholesterolemiaJoep C Defesche, Peter J Lansberg, Marina A W Umans-Eckenhausen, et al.
Neurology|September 1, 1990
Genetic linkage of hereditary motor and sensory neuropathy type I (Charcot-Marie-Tooth disease) to markers of chromosomes 1 and 17J C Defesche, J E Hoogendijk, M de Visser, et al.
Circulation|December 11, 2002
Low-density lipoprotein receptor gene mutations and cardiovascular risk in a large genetic cascade screening populationMarina A W Umans-Eckenhausen, Eric J G Sijbrands, John J P Kastelein, et al.
Journal of Clinical Lipidology|February 24, 2020
ABCG5 and ABCG8 genetic variants in familial hypercholesterolemiaLaurens F Reeskamp, Andrea Volta, Linda Zuurbier, et al.
Archives of Internal Medicine|January 14, 2003
Long-term compliance with lipid-lowering medication after genetic screening for familial hypercholesterolemiaMarina A W Umans-Eckenhausen, Joep C Defesche, Marjel J van Dam, et al.
Lancet (London, England)|February 24, 2001
Review of first 5 years of screening for familial hypercholesterolaemia in the NetherlandsM A Umans-Eckenhausen, J C Defesche, E J Sijbrands, et al.
Atherosclerosis|September 16, 1999
Familial hypercholesterolemia. Acceptor splice site (G-->C) mutation in intron 7 of the LDL-R gene: alternate RNA editing causes exon 8 skipping or a premature stop codon in exon 8. LDL-R(Honduras-1) [LDL-R1061(-1) G-->C]L Yu, E Heere-Ress, B Boucher, et al.
BMC Neurology|October 22, 2013
Observational skills assessment score: reliability in measuring amount and quality of use of the affected hand in unilateral cerebral palsyLucianne Speth, Yvonne Janssen-Potten, Pieter Leffers, et al.
Nederlands Tijdschrift Voor Geneeskunde|August 10, 2000
[Higher prevalence of familial hypercholesterolemia than expected in adult patients of four family practices in Netherlands]P J Lansberg, S Tuzgöl, M A van de Ree, et al.
Annals of Clinical Biochemistry|March 8, 2008
High-resolution melting analysis for detection of familial ligand-defective apolipoprotein B-100 mutationsKhemanganee E Liyanage, Amanda J Hooper, Joep C Defesche, et al.
Pageof 18

Showing results (51-60 of 178) with videos related to

Sort By:
Pageof 18
Seminars in Vascular Medicine|June 17, 2004
Advanced method for the identification of patients with inherited hypercholesterolemiaJoep C Defesche, Peter J Lansberg, Marina A W Umans-Eckenhausen, et al.
Neurology|September 1, 1990
Genetic linkage of hereditary motor and sensory neuropathy type I (Charcot-Marie-Tooth disease) to markers of chromosomes 1 and 17J C Defesche, J E Hoogendijk, M de Visser, et al.
Circulation|December 11, 2002
Low-density lipoprotein receptor gene mutations and cardiovascular risk in a large genetic cascade screening populationMarina A W Umans-Eckenhausen, Eric J G Sijbrands, John J P Kastelein, et al.
Journal of Clinical Lipidology|February 24, 2020
ABCG5 and ABCG8 genetic variants in familial hypercholesterolemiaLaurens F Reeskamp, Andrea Volta, Linda Zuurbier, et al.
Archives of Internal Medicine|January 14, 2003
Long-term compliance with lipid-lowering medication after genetic screening for familial hypercholesterolemiaMarina A W Umans-Eckenhausen, Joep C Defesche, Marjel J van Dam, et al.
Lancet (London, England)|February 24, 2001
Review of first 5 years of screening for familial hypercholesterolaemia in the NetherlandsM A Umans-Eckenhausen, J C Defesche, E J Sijbrands, et al.
Atherosclerosis|September 16, 1999
Familial hypercholesterolemia. Acceptor splice site (G-->C) mutation in intron 7 of the LDL-R gene: alternate RNA editing causes exon 8 skipping or a premature stop codon in exon 8. LDL-R(Honduras-1) [LDL-R1061(-1) G-->C]L Yu, E Heere-Ress, B Boucher, et al.
BMC Neurology|October 22, 2013
Observational skills assessment score: reliability in measuring amount and quality of use of the affected hand in unilateral cerebral palsyLucianne Speth, Yvonne Janssen-Potten, Pieter Leffers, et al.
Nederlands Tijdschrift Voor Geneeskunde|August 10, 2000
[Higher prevalence of familial hypercholesterolemia than expected in adult patients of four family practices in Netherlands]P J Lansberg, S Tuzgöl, M A van de Ree, et al.
Annals of Clinical Biochemistry|March 8, 2008
High-resolution melting analysis for detection of familial ligand-defective apolipoprotein B-100 mutationsKhemanganee E Liyanage, Amanda J Hooper, Joep C Defesche, et al.
Pageof 18