Projects 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
Projects
- 2 Active
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GUIDELINES4RARE
Klein Haneveld, M., Gaasterland, C., van Eeghen, A. M. & Cornel, M. C.
1/09/2022 → 31/08/2026
Project: Research
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PROM4RARE: Developing a generic core PROM set for individuals with genetic intellectual disability
van Silfhout, N., van Muilekom, M., Van Karnebeek, C., Haverman, L. & van Eeghen, A. M.
1/06/2022 → 31/05/2026
Project: Research
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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
5 Citations (Scopus) -
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
Open Access5 Citations (Scopus) -
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
Open Access33 Citations (Scopus) -
Growing up with Fragile X Syndrome: Concerns and Care Needs of Young Adult Patients and Their Parents
Van Remmerden, M. C., Hoogland, L., Mous, S. E., Dierckx, B., Coesmans, M., Moll, H. A., Lubbers, K., Lincken, C. R. & Van Eeghen, A. M., 1 Jun 2020, In: Journal of Autism and Developmental Disorders. 50, 6, p. 2174-2187 14 p.Research output: Contribution to journal › Article › Academic › peer-review
Open Access10 Citations (Scopus) -
Everolimus for the treatment of refractory seizures associated with tuberous sclerosis complex (TSC): Current perspectives: current perspectives
Overwater, I. E., Rietman, A. B., van Eeghen, A. M. & de Wit, M. C. Y., 1 Jan 2019, In: Therapeutics and Clinical Risk Management. 15, p. 951-955 5 p.Research output: Contribution to journal › Review article › Academic › peer-review
Open Access39 Citations (Scopus)