PI
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Personalized medicine for rare neurogenetic disorders: can we make it happen?
van Eeghen, A. M., Bruining, H., Wolf, N. I., Bergen, A. A., Houtkooper, R. H., van Haelst, M. M. & van Karnebeek, C. D., 1 Feb 2022, In: Cold Spring Harbor molecular case studies. 8, 2, a006200.Research output: Contribution to journal › Review article › Academic › peer-review
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Methylphenidate for attention-deficit/hyperactivity disorder in patients with Smith–Magenis syndrome: protocol for a series of N-of-1 trials
Müller, A. R., Zinkstok, J. R., Rommelse, N. N. J., van de Ven, P. M., Roes, K. C. B., Wijburg, F. A., de Rooij-Askes, E., Linders, C., Boot, E. & van Eeghen, A. M., 1 Dec 2021, In: Orphanet Journal of Rare Diseases. 16, 1, 380.Research output: Contribution to journal › Article › Academic › peer-review
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Systematic Review of N-of-1 Studies in Rare Genetic Neurodevelopmental Disorders: The Power of 1
Müller, A. R., Brands, M. M., van de Ven, P. M., Roes, K. C., Cornel, M. C., van Karnebeek, C. D., Wijburg, F. A., Daams, J. G., Boot, E. & van Eeghen, A. M., 16 Mar 2021, In: Neurology. 96, 11, p. 529-540 12 p.Research output: Contribution to journal › Review 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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Cancer risks related to intellectual disabilities: A systematic review
Banda, A., Naaldenberg, J., Timen, A., van Eeghen, A., Leusink, G. & Cuypers, M., 1 May 2024, In: Cancer Medicine. 13, 9, e7210.Research output: Contribution to journal › Review article › Academic › peer-review
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Corrigendum to "Effectiveness of L-serine supplementation in children with a GRIN2B loss-of-function mutation: Rationale and protocol for single patient (n-of-1) multiple cross-over trials” [Contemp. Clin. Trials Commun. 36 (2023)/ DOI: 10.1016/j.conctc.2023.101233] (Contemporary Clinical Trials Communications (2023) 36, (S2451865423001795), (10.1016/j.conctc.2023.101233))
Hollander, B. D., Rothuizen-Lindenschot, M., Geertjens, L., Vaz, F. M., Brands, M. M., Le, H. L., van Eeghen, A. M., van de Ven, P. M., Cornel, M. C., Jacobs, B. A. W., Bruining, H. & van Karnebeek, C. D., Apr 2024, In: Contemporary Clinical Trials Communications. 38, p. 101264 101264.Research output: Contribution to journal › Comment/Letter to the editor › Academic
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