Genetica & Celbiologie

Mind the gatekeeper: key role of NPC1 protein and lysosomal cholesterol in metabolic diseases and therapeutical implications
Goncalves Magro Dos Reis, I. A., 2022, Maastricht: Gildeprint Drukkerijen. 180 p.
Research output: Thesis › Doctoral Thesis › Internal

Open Access
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19 Downloads (Pure)
A catalogue of 863 Rett-syndrome-causing MECP2 mutations and lessons learned from data integration
Ehrhart, F., Jacobsen, A., Rigau, M., Bosio, M., Kaliyaperumal, R., Laros, J. F. J., Willighagen, E. L., Valencia, A., Roos, M., Capella-gutierrez, S., Curfs, L. M. G. & Evelo, C. T., 15 Jan 2021, In: Scientific data. 8, 1, 12 p., 10.
Research output: Contribution to journal › Article › Academic › peer-review

Open Access
A guideline for the clinical management of basal cell naevus syndrome (Gorlin-Goltz syndrome)
Verkouteren, B. J. A., Cosgun, B., Reinders, M. G. H. C., Kessler, P. A. W. K., Vermeulen, R. J., Klaassens, M., Lambrechts, S., van Rheenen, J. R., van Geel, M., Vreeburg, M. & Mosterd, K., 10 Aug 2021, (E-pub ahead of print) In: British Journal of Dermatology. 12 p.
Research output: Contribution to journal › Article › Academic › peer-review

Open Access
File

1 Citation (Web of Science)

DSM Science & Technology Prize 2012
Bieghs, V. (Recipient), 1 Jan 2012
Prize: Prize (including medals and awards) › Academic

Personalised Medicine
Frans Ramaekers
21/02/13
1 Media contribution
Press/Media: Public Engagement › Popular

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