Research output per year
Research output per year
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
Profiles
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Development of the Dutch translational knowledge agenda for inherited metabolic diseases
Hieltjes, I. J., van der Lee, J. H., Groenendijk, M. C., van Haaften, G., van Hasselt, P. M., Lunsing, R. J., van Prooijen, G. J. J., de Ruiter, E. M., van Spronsen, F. J., Verhoeven-Duif, N. M., de Vreugd, A., Wagenmakers, M., Zweers, H., Dekker, H., Waterham, H. R., van Karnebeek, C. D., Wanders, R. J. A. & Wevers, R. A., Jan 2025, In: JIMD Reports. 66, 1, e12455.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile1 Downloads (Pure) -
Gene therapy in advanced metachromatic leukodystrophy: tempering expectations
Schoenmakers, D. H., Beerepoot, S., Adang, L. A., Asbreuk, M. A. B. C., Bergner, C. G., Bley, A. E., Boelens, J. J., Calbi, V., Darling, A., Eklund, E., García Cazorla, Á., Grønborg, S. W., Groeschel, S., van Hasselt, P. M., Hollak, C. E. M., Horgan, C., Jones, S., de Koning, T., Laugwitz, L. & Lindemans, C. & 9 others, , 1 Jan 2025, In: Protein and Cell. 16, 1, p. 12-15 4 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile -
Imaging flow cytometry-based cellular screening elucidates pathophysiology in individuals with Variants of Uncertain Significance
Muffels, I. J. J., Waterham, H. R., D’Alessandro, G., Zagnoli-Vieira, G., Sacher, M., Lefeber, D. J., Van der Vinne, C., Roifman, C. M., Gassen, K. L. I., Rehmann, H., Van Haaften-Visser, D. Y., Nieuwenhuis, E. S. S., Jackson, S. P., Fuchs, S. A., Wijk, F. & van Hasselt, P., 7 Feb 2025, In: Genome Medicine. 17, 1, 21 p., 12.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile
Activities
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Introductie Ontwikkelingsachterstand
Koop, K. (Speaker)
3 Oct 2024Activity: Talk or presentation › Invited talk › Academic
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Mini docu Gijs Rademaker en Dr. Peter van Hasselt
van Hasselt, P. (Interviewee)
Oct 2024Activity: Other › Types of Public engagement and outreach - Media article or participation
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Liver models of rare diseases
Fuchs, S. (Speaker)
5 Sept 2024Activity: Talk or presentation › Oral presentation › Academic
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Prizes
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Clarivate Highly Cited Researcher
Kooijmans, S. (Recipient), 2022
Prize: National/international honour
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Press/Media
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Deze arts wil erfelijke ziektes genezen door je dna te repareren - Universiteit van Nederland
8/10/23
1 Media contribution
Press/Media: Public Engagement Activities
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UMC&ZO: interview over Certificate Course (EUREKA Institute for Translational Medicine
1/12/17
1 Media contribution
Press/Media: Expert Comment
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Na negen jaar een diagnose: dit gebeurde in de tussentijd - Volkskrant
Gepke Visser
8/07/17
1 Media contribution
Press/Media: Expert Comment