Edith Friesema

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dr. Edith Friesema

 https://orcid.org/0000-0001-7743-1907
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  • 2023

    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, Aarsand, A. K., Desnick, R. J., Garton, M. & Roth, F. P., 6 Feb 2023, (bioRxiv).

    Research output: Working paper › Preprint › Academic

    Open Access