PI
Amsterdam Reproduction & Development
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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., Roes, K. C. B., 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., Roes, K. C., Cornel, M. C., van Karnebeek, C. D., 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., 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., 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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Evaluation of 100 Dutch cases with 16p11.2 deletion and duplication syndromes; from clinical manifestations towards personalized treatment options
Kleinendorst, L., van der Laan, L., van Uhm, J., Jansen, P. R., van Eeghen, A. M., Maas, S. M., Mannens, M. M. A. M. & van Haelst, M. M., Nov 2024, In: European journal of human genetics. 32, 11, p. 1387-1401 15 p.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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