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
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
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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 AccessFile -
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 AccessFile -
Association of Afamelanotide With Improved Outcomes in Patients With Erythropoietic Protoporphyria in Clinical Practice
Wensink, D., Wagenmakers, M., Barman-Aksozen, J., Friesema, E., Wilson, J. H. P., van Rosmalen, J. & Langendonk, J., 2020, In: JAMA Dermatology. 156, 5, p. 570-575 6 p.Research output: Contribution to journal › Article › Academic › peer-review
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Diagnostic and therapeutic strategies for porphyrias
Neeleman, R., Wensink, D., Wagenmakers, M., Mijnhout, G., Friesema, E. & Langendonk, J., 2020, In: Netherlands Journal of Medicine. 78, 4, p. 149-160 12 p.Research output: Contribution to journal › Article › Academic › peer-review
17 Citations (Scopus)
Activities
- 2 Invited talk
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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