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
Profiles
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Sylvia Huisman
- Amsterdam Neuroscience - Cellular & Molecular Mechanisms (AMC) - Standard PhD Candidate
- Paediatric Genetics (AMC) - MD-PhD
- Paediatrics (AMC) - Medical Specialist
Person: Academic
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The Parent Journey: Navigating in the health care context for Individuals with Rare Genetic Intellectual Disability Syndrome
Nasori, M., Huisman, S., Geukers, V., Oostrom, K. & Haverman, L.
1/09/2023 → 1/09/2026
Project: Research
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ZOM: Opmaat naar zorg op maat: Interprofessionele samenwerking met ouders als experts!
1/07/2023 → 1/07/2026
Project: Research
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MosaCdLS: Modelling neurodevelopmental defects and mosaicism in CdLS using human brain organoids
1/06/2023 → …
Project: Research
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Diagnosis and management in Rubinstein-Taybi syndrome: First international consensus statement
Lacombe, D., Bloch-Zupan, A., Bredrup, C., Cooper, E. B., Houge, S. D., García-Miñaúr, S., Kayserili, H. L., Larizza, L., Lopez Gonzalez, V., Menke, L. A., Milani, D., Saettini, F., Stevens, C. A., Tooke, L., van der Zee, J. A., Genderen, M. M. V., van-Gils, J., Waite, J., Adrien, J-L., Bartsch, O., & 32 others, 1 Jun 2024, In: Journal of medical genetics. 61, 6, p. 503-519 17 p., jmg-2023-109438.Research output: Contribution to journal › Article › Academic › peer-review
Open Access -
DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variants
van der Laan, L., Lauffer, P., Rooney, K., Silva, A., Haghshenas, S., Relator, R., Levy, M. A., Trajkova, S., Huisman, S. A., Bijlsma, E. K., Kleefstra, T., van Bon, B. W., Baysal, Ö., Zweier, C., Palomares-Bralo, M., Fischer, J., Szakszon, K., Faivre, L., Piton, A., Mesman, S., & 14 others, 18 Jul 2024, In: Human Genetics and Genomics Advances. 5, 3, p. 100289 100289.Research output: Contribution to journal › Article › Academic › peer-review
Open Access1 Citation (Scopus) -
Healthcare for people with intellectual disabilities in the Netherlands
Huisman, S., Festen, D. & Bakker-van Gijssel, E., 1 Jun 2024, In: JOURNAL OF POLICY AND PRACTICE IN INTELLECTUAL DISABILITIES. 21, 2, e12496.Research output: Contribution to journal › Article › Academic › peer-review
Open Access