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A case of lipoprotein glomerulopathy due to the pathogenic APOE Las Vegas variant c.509C>A: p. (Ala170Asp)
Mulder, J. W. C. M., ‘t Hart, N., Mulder, M. T., Zuurbier, L. & Roeters van Lennep, J. E., 1 Jan 2025, In: Journal of clinical lipidology. 19, 1, p. 183-187 5 p.Research output: Contribution to journal › Article* › Academic › peer-review
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LDLR variant classification for improved cardiovascular risk prediction in familial hypercholesterolemia
Ibrahim, S., Hartgers, M. L., Reeskamp, L. F., Zuurbier, L., Defesche, J., Kastelein, J. J. P., Stroes, E. S. G., Hovingh, G. K. & Huijgen, R., Oct 2024, In: Atherosclerosis. 397, 117610.Research output: Contribution to journal › Article* › Academic › peer-review
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PSMD11 loss-of-function variants correlate with a neurobehavioral phenotype, obesity, and increased interferon response
Deb, W., Rosenfelt, C., Vignard, V., Papendorf, J. J., Möller, S., Wendlandt, M., Studencka-Turski, M., Cogné, B., Besnard, T., Ruffier, L. A., Toutain, B. R., Poirier, L. A., Cuinat, S., Kritzer, A., Crunk, A., diMonda, J., Vengoechea, J., Mercier, S., Kleinendorst, L. & van Haelst, M. M. & 27 others, , 11 Jul 2024, In: American journal of human genetics. 111, 7, p. 1352-1369 18 p.Research output: Contribution to journal › Article* › Academic › peer-review
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