Research output per year
Research output per year
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Dive into the research topics where Edith Friesema is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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Collaborations and top research areas from the last five years
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LR11/SorLA and its role in cardiovascular disease
Kloosterman, M., Vongpromek, R., Friesema, E. C. H., Bramer, W., Verhoeven, A. J. M. & Mulder, M. T., Oct 2026, In: IJC Heart and Vasculature. 66, 101982.Research output: Contribution to journal › Review article › Academic › peer-review
Open AccessFile3 Downloads (Pure) -
Triglyceride-rich lipoprotein sphingolipids are altered in primary hypertension: A pilot case-control study
Alidjan, F. M., Hoedt, S. D., Rashid, M., Zee-van Vark, L. C. V. D., Voortman, G. J., Dorst-Lagerwerf, K. Y., Christoffersen, C., Lafeber, M., Roeters van Lennep, J. E., Verhoeven, A. J. M., Friesema, E. C. H. & Mulder, M. T., 1 May 2025, In: Journal of Clinical Lipidology. 19, 3, p. 468-476 9 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile56 Downloads (Pure) -
Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation
van Loggerenberg, W., Sowlati-Hashjin, S., Weile, J., Hamilton, R., Chawla, A., Sheykhkarimli, D., Gebbia, M., Kishore, N., Frésard, L., Mustajoki, S., Pischik, E., Di Pierro, E., Barbaro, M., Floderus, Y., Schmitt, C., Gouya, L., Colavin, A., Nussbaum, R., Friesema, E. C. H. & Kauppinen, R. & 5 others, , 5 Oct 2023, In: American Journal of Human Genetics. 110, 10, p. 1769-1786 18 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile23 Citations (Scopus)286 Downloads (Pure) -
Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation
van Loggerenberg, W., Sowlati-Hashjin, S., Weile, J., Hamilton, R., Chawla, A., Gebbia, M., Kishore, N., Frésard, L., Mustajoki, S., Pischik, E., Pierro, E. D., Barbaro, M., Floderus, Y., Schmitt, C., Gouya, L., Colavin, A., Nussbaum, R., Friesema, E. C. H., Kauppinen, R. & To-Figueras, J. & 4 others, , 6 Feb 2023, (bioRxiv).Research output: Working paper › Preprint › Academic
Open Access -
Mortality in Pedigrees with Acute Intermittent Porphyria
Neeleman, R., Musters, K., Wagenmakers, M., Mijnhout, S., Friesema, E., Sijbrands, E. & Langendonk, J., 8 Dec 2022, In: Life. 12, 12, 2059.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile1 Citation (Scopus)118 Downloads (Pure)
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Multidisciplinair Symposium Porfyrie
Friesema, E. (Organiser), Langendonk, J. (Member of programme committee) & Peltenburg, C. (Member of programme committee)
28 May 2026Activity: Participating in or organising an event › Organising and contributing to an event › Professional
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Opleidingsdag MDL en ijzermetabolisme
Friesema, E. (Speaker)
13 Nov 2025Activity: Talk or presentation › Invited talk › Academic
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Opleidingsdag MDL en ijzermetabolisme
Friesema, E. (Speaker)
8 Oct 2024Activity: Talk or presentation › Invited talk › Academic
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Opleidingsdag MDL en ijzermetabolisme
Friesema, E. (Speaker)
9 Oct 2023Activity: Talk or presentation › Invited talk › Academic
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Opleidingsdag MDL en ijzermetabolisme
Friesema, E. (Speaker)
28 Oct 2022Activity: Talk or presentation › Invited talk › Academic