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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Peter van Hasselt
- Division of Pediatrics, Metabolic diseases patient care - Associate Professor
- Child Health
- Infection & Immunity
Person: Associate Professor - medical
Research output
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A rare triplication of 16p11.2: Unravelling the genomic complexity and review of the literature
van der Laan, L., Kleinendorst, L., Haagmans, M. A., Roquas, L., van der Smagt, J. J., Koop, K., Henneman, P. & van Haelst, M. M., Jun 2025, In: European Journal of Medical Genetics. 75, 7 p., 105013.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile -
Beyond proline shortage: New insights into the pathophysiology of prolidase deficiency
Sainsbury, S. G., van den Broek, T. & van Hasselt, P. M., Jul 2025, In: Molecular Genetics and Metabolism. 145, 3, 109152.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile -
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 AccessFile2 Downloads (Pure)
Activities
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55th European Metabolic Group Conference
Fuchs, S. (Participant)
22 May 2025 → 24 May 2025Activity: Participating in or organising an event › Participation in conference › Academic
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Bot en kraakbeencomplicaties in MPS type I na HSCT en lentivirale gentherapie
van Hasselt, P. (Speaker)
20 May 2025Activity: Talk or presentation › Oral presentation › Academic
File -
ESN Voorjaarssymposium 2025
Fuchs, S. (Participant)
19 May 2025 → 20 May 2025Activity: Participating in or organising an event › Participation in conference › Academic
File
Prizes
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Elisabeth von Freyburg penning
Fuchs, S. A. (Recipient), 2016
Prize: Prize (including medals and awards)
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Elisabeth von Freyburg Stichting: Better Care for the Rare – testing new treatments in mini-organs with genetic diseases
Fuchs, S. (Recipient) & Beekman, J. (Recipient), 2019
Prize: Prize (including medals and awards)
File
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