PI
Amsterdam Reproduction & Development
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Novel Insights Into Gyrate Atrophy of the Choroid and Retina (GACR): A Cohort Study
Balfoort, B. M., van den Broeck, F., Boon, C. J. F., Brouwers, M. C. G. J., Diederen, R. M. H., Dhillon, P. & GACR “Bird's Eye View” Consortium, 1 Jan 2025, In: Journal of inherited metabolic disease. 48, 1, e12842.Research output: Contribution to journal › Article* › Academic › peer-review
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Cannabidiol (Epidyolex®) for severe behavioral manifestations in patients with tuberous sclerosis complex, mucopolysaccharidosis type III and fragile X syndrome: protocol for a series of randomized, placebo-controlled N-of-1 trials
Müller, A. R., den Hollander, B., van de Ven, P. M., Roes, K. C. B., Geertjens, L., Bruining, H., van Karnebeek, C. D. M., Jansen, F. E., de Wit, M. C. Y., Ten Hoopen, L. W., Rietman, A. B., Dierckx, B., Wijburg, F. A., Boot, E., Brands, M. M. G. & van Eeghen, A. M., 1 Dec 2024, In: BMC psychiatry. 24, 1, p. 23 23.Research output: Contribution to journal › Article* › Academic › peer-review
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Do we care? Reporting of genetic diagnoses in multidisciplinary intellectual disability care: a retrospective chart review
Müller, A. R., Boot, E., Notermans, S. B., Schuengel, C., Henneman, L., Cornel, M. C., van Haelst, M. M., Alders, M., van Karnebeek, C. D. M., Bijl, B., Wijburg, F. A. & van Eeghen, A. M., 1 Dec 2024, In: Orphanet journal of rare diseases. 19, 1, p. 346 346.Research output: Contribution to journal › Article* › Academic › peer-review
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