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Barbara Sjouke

Showing results (11-20 of 40) with videos related to

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Atherosclerosis|October 5, 2018
Screening for lysosomal acid lipase deficiency: A retrospective data mining study and evaluation of screening criteriaLaura G Draijer, Annet M Bosch, Albert Wiegman, 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.
Scientific Reports|October 28, 2017
Effects of Supra-Physiological Levothyroxine Dosages on Liver Parameters, Lipids and Lipoproteins in Healthy Volunteers: A Randomized Controlled Crossover StudyBarbara Sjouke, Laura P B Elbers, Bregje van Zaane, et al.
Thrombosis Research|June 9, 2016
Effects of mineralocorticoid receptor antagonists on the risk of thrombosis, bleeding and mortality: A systematic review and meta-analysis of randomized controlled trialsLaura P B Elbers, Barbara Sjouke, Faïez Zannad, et al.
Journal of Clinical Lipidology|February 24, 2019
The clinical and molecular diversity of homozygous familial hypercholesterolemia in children: Results from the GeneTics of clinical homozygous hypercholesterolemia (GoTCHA) studyIlse K Luirink, Marjet J A M Braamskamp, Albert Wiegman, et al.
Journal of Clinical Lipidology|December 7, 2016
Double-heterozygous autosomal dominant hypercholesterolemia: Clinical characterization of an underreported diseaseBarbara Sjouke, Joep C Defesche, Merel L Hartgers, 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.
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.
Molecular Genetics and Metabolism|April 23, 2025
The value of MR spectroscopy and MR elastography in assessing hepatic involvement of chronic visceral acid sphingomyelinase deficiency in adultsEline C B Eskes, Sandra A M van den Berg-Faaij, Nienke P M Wassenaar, et al.
Journal of Inherited Metabolic Disease|July 27, 2025
Exploring Exhaled Breath Analysis in Adults With Chronic Visceral Acid Sphingomyelinase Deficiency to Identify Potential Biomarkers of Pulmonary InvolvementEline C B Eskes, Bauke V Schomakers, Michel van Weeghel, et al.
Pageof 4

Showing results (11-20 of 40) with videos related to

Sort By:
Pageof 4
Atherosclerosis|October 5, 2018
Screening for lysosomal acid lipase deficiency: A retrospective data mining study and evaluation of screening criteriaLaura G Draijer, Annet M Bosch, Albert Wiegman, 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.
Scientific Reports|October 28, 2017
Effects of Supra-Physiological Levothyroxine Dosages on Liver Parameters, Lipids and Lipoproteins in Healthy Volunteers: A Randomized Controlled Crossover StudyBarbara Sjouke, Laura P B Elbers, Bregje van Zaane, et al.
Thrombosis Research|June 9, 2016
Effects of mineralocorticoid receptor antagonists on the risk of thrombosis, bleeding and mortality: A systematic review and meta-analysis of randomized controlled trialsLaura P B Elbers, Barbara Sjouke, Faïez Zannad, et al.
Journal of Clinical Lipidology|February 24, 2019
The clinical and molecular diversity of homozygous familial hypercholesterolemia in children: Results from the GeneTics of clinical homozygous hypercholesterolemia (GoTCHA) studyIlse K Luirink, Marjet J A M Braamskamp, Albert Wiegman, et al.
Journal of Clinical Lipidology|December 7, 2016
Double-heterozygous autosomal dominant hypercholesterolemia: Clinical characterization of an underreported diseaseBarbara Sjouke, Joep C Defesche, Merel L Hartgers, 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.
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.
Molecular Genetics and Metabolism|April 23, 2025
The value of MR spectroscopy and MR elastography in assessing hepatic involvement of chronic visceral acid sphingomyelinase deficiency in adultsEline C B Eskes, Sandra A M van den Berg-Faaij, Nienke P M Wassenaar, et al.
Journal of Inherited Metabolic Disease|July 27, 2025
Exploring Exhaled Breath Analysis in Adults With Chronic Visceral Acid Sphingomyelinase Deficiency to Identify Potential Biomarkers of Pulmonary InvolvementEline C B Eskes, Bauke V Schomakers, Michel van Weeghel, et al.
Pageof 4