17 results on '"Defesche, Joep C."'
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2. The clinical and molecular diversity of homozygous familial hypercholesterolemia in children: Results from the GeneTics of clinical homozygous hypercholesterolemia (GoTCHA) study
3. Alirocumab efficacy in patients with double heterozygous, compound heterozygous, or homozygous familial hypercholesterolemia
4. Efficacy of alirocumab in 1191 patients with a wide spectrum of mutations in genes causative for familial hypercholesterolemia
5. Plasma lipoprotein(a) levels in patients with homozygous autosomal dominant hypercholesterolemia
6. Double-heterozygous autosomal dominant hypercholesterolemia: Clinical characterization of an underreported disease
7. Ten years of lipoprotein apheresis for familial hypercholesterolemia in Malaysia: A creative approach by a cardiologist in a developing country
8. Children with hypercholesterolemia of unknown cause: Value of genetic risk scores
9. Counseling couples at risk of having a child with homozygous familial hypercholesterolemia – Clinical experience and recommendations
10. A DNA Microarray for the Detection of Point Mutations and Copy Number Variation Causing Familial Hypercholesterolemia in Europe
11. Defining the challenges of FH Screening for familial hypercholesterolemia
12. Effects of intronic mutations in the LDLR gene on pre-mRNA splicing: Comparison of wet-lab and bioinformatics analyses
13. Genetic diagnosis of familial hypercholesterolemia using a DNA-array based platform
14. Usefulness of Genetic Polymorphisms and Conventional Risk Factors to Predict Coronary Heart Disease in Patients With Familial Hypercholesterolemia
15. Longitudinal Evaluation and Assessment of Cardiovascular Disease in Patients With Homozygous Familial Hypercholesterolemia
16. Recent Origin and Spread of a Common Lithuanian Mutation, G197del LDLR, Causing Familial Hypercholesterolemia: Positive Selection Is Not Always Necessary to Account for Disease Incidence among Ashkenazi Jews
17. Corrigendum to “Efficacy of alirocumab in 1191 patients with a wide spectrum of mutations in genes causative for familial hypercholesterolemia” J Clin Lipidol 11 (2017) 1338-1346
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