Amsterdam Cardiovascular Sciences

Intronic variant screening with targeted next-generation sequencing reveals first pseudoexon in LDLR in familial hypercholesterolemia

Reeskamp, L. F., Balvers, M., Peter, J., van de Kerkhof, L., Klaaijsen, L. N., Motazacker, M. M., Grefhorst, A., van Riel, N. A. W., Hovingh, G. K., Defesche, J. C. & Zuurbier, L., 1 Mar 2021, In: Atherosclerosis. 321, p. 14-20 7 p.

Research output: Contribution to journal › Article* › Academic › peer-review

Novel PCSK9 (Proprotein Convertase Subtilisin Kexin Type 9) Variants in Patients with Familial Hypercholesterolemia from Cape Town

Huijgen, R., Blom, D. J., Hartgers, M. L., Chemello, K. V., Benito-Vicente, A., Uribe, K. B., Behardien, Z., Blackhurst, D. M., Brice, B. C., Defesche, J. C., de Jong, A. G., Jooste, R. J., Solomon, G. A. E., Wolmarans, K. H., Hovingh, G. K., Martin, C., Lambert, G. & Marais, A. D., Feb 2021, In: Arteriosclerosis, thrombosis, and vascular biology. 41, 2, p. 934-943 10 p.

Research output: Contribution to journal › Article* › Academic › peer-review

Differential DNA methylation in familial hypercholesterolemia

Reeskamp, L. F., Venema, A., Pereira, J. P. B., Levin, E., Nieuwdorp, M., Groen, A. K., Defesche, J. C., Grefhorst, A., Henneman, P. & Hovingh, G. K., 1 Nov 2020, In: EBioMedicine. 61, 103079.

Research output: Contribution to journal › Article* › Academic › peer-review