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Defesche

Showing results (71-80 of 178) with videos related to

Pageof 18
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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.
The Journal of Clinical Investigation|May 1, 1997
Sib-pair analysis detects elevated Lp(a) levels and large variation of Lp(a) concentration in subjects with familial defective ApoBY Y van der Hoek, A Lingenhel, H G Kraft, et al.
Frontiers in Rehabilitation Sciences|April 3, 2023
Neuro-imaging characteristics of sensory impairment in cerebral palsy; a systematic reviewA C S Knijnenburg, C V M Steinbusch, Y J M Janssen-Potten, et al.
Expert Review of Cardiovascular Therapy|April 12, 2008
Familial hypercholesterolemia: current treatment and advances in managementRoeland Huijgen, Maud N Vissers, Joep C Defesche, et al.
European Heart Journal|December 19, 2009
The risk of tendon xanthomas in familial hypercholesterolaemia is influenced by variation in genes of the reverse cholesterol transport pathway and the low-density lipoprotein oxidation pathwayDaniëlla M Oosterveer, Jorie Versmissen, Mojgan Yazdanpanah, et al.
BMJ (Clinical Research Ed.)|April 28, 2001
Mortality over two centuries in large pedigree with familial hypercholesterolaemia: family tree mortality studyE J Sijbrands, R G Westendorp, J C Defesche, et al.
European Journal of Preventive Cardiology|July 29, 2020
Next-generation sequencing to confirm clinical familial hypercholesterolemiaLaurens F Reeskamp, Tycho R Tromp, Joep C Defesche, et al.
Netherlands Heart Journal : Monthly Journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation|April 9, 2011
Founder mutations in the Netherlands: geographical distribution of the most prevalent mutations in the low-density lipoprotein receptor and apolipoprotein B genesD M Kusters, R Huijgen, J C Defesche, et al.
Human 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.
Clinical Genetics|April 11, 2008
Silent exonic mutations in the low-density lipoprotein receptor gene that cause familial hypercholesterolemia by affecting mRNA splicingJ C Defesche, E J M Schuurman, L N Klaaijsen, et al.
Pageof 18

Showing results (71-80 of 178) with videos related to

Sort By:
Pageof 18
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.
The Journal of Clinical Investigation|May 1, 1997
Sib-pair analysis detects elevated Lp(a) levels and large variation of Lp(a) concentration in subjects with familial defective ApoBY Y van der Hoek, A Lingenhel, H G Kraft, et al.
Frontiers in Rehabilitation Sciences|April 3, 2023
Neuro-imaging characteristics of sensory impairment in cerebral palsy; a systematic reviewA C S Knijnenburg, C V M Steinbusch, Y J M Janssen-Potten, et al.
Expert Review of Cardiovascular Therapy|April 12, 2008
Familial hypercholesterolemia: current treatment and advances in managementRoeland Huijgen, Maud N Vissers, Joep C Defesche, et al.
European Heart Journal|December 19, 2009
The risk of tendon xanthomas in familial hypercholesterolaemia is influenced by variation in genes of the reverse cholesterol transport pathway and the low-density lipoprotein oxidation pathwayDaniëlla M Oosterveer, Jorie Versmissen, Mojgan Yazdanpanah, et al.
BMJ (Clinical Research Ed.)|April 28, 2001
Mortality over two centuries in large pedigree with familial hypercholesterolaemia: family tree mortality studyE J Sijbrands, R G Westendorp, J C Defesche, et al.
European Journal of Preventive Cardiology|July 29, 2020
Next-generation sequencing to confirm clinical familial hypercholesterolemiaLaurens F Reeskamp, Tycho R Tromp, Joep C Defesche, et al.
Netherlands Heart Journal : Monthly Journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation|April 9, 2011
Founder mutations in the Netherlands: geographical distribution of the most prevalent mutations in the low-density lipoprotein receptor and apolipoprotein B genesD M Kusters, R Huijgen, J C Defesche, et al.
Human 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.
Clinical Genetics|April 11, 2008
Silent exonic mutations in the low-density lipoprotein receptor gene that cause familial hypercholesterolemia by affecting mRNA splicingJ C Defesche, E J M Schuurman, L N Klaaijsen, et al.
Pageof 18