Collaborations and top research areas from the last five years
Profiles
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Genetic and Phenotypic Features of the Five Known Polyaminopathies: A Critical Narrative Review
VanSickle, E. A., Sarasua, S. M., Lowe, T., Farrell, C. L., Boccuto, L., Schwartz, C., Pegg, A. E., Peron, A., Faundes, V., Ganapathi, M., Chung, W. K., Ziegler, A., Hofstede, F., Prouteau, C., Steindl, K., Olson, C., Devinsky, O., Mastracci, T. L., Casero, R. A. & Stewart, T. M. & 7 others, , May 2026, In: American Journal of Medical Genetics, Part A. 200, 5, p. 993-1003 11 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile -
Making shared care work: A national qualitative case study on collaborative practice in pediatric oncology
Dors, N., van Grotel, M., Zijtregtop, E., van der Salm, N., Keukens, L., Lavrijssen, S., Drykoningen, C., Poerink, A. J., Thompson, R., Homan, J., Weismuller, M., Nix, W., Blufpand, H., van der Wey, A., Martens, D., Hekkelaan, M., Helder, L., Kollen, W., van Noesel, M. & Hennus, M. P., Jun 2026, In: EJC Paediatric Oncology. 7, 100485.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile -
A comprehensive overview of neuropsychiatric symptoms in adolescents with 22q11.2 deletion syndrome
Selten, I., Blok, J., Boerma, T., Djelantik, A. A. A. M. J., Houben, M., Wijnen, F., Zinkstok, J., Vorstman, J. A. S. & Fiksinski, A. M., Feb 2025, In: Journal of Intellectual Disability Research. 69, 2, p. 113-126 14 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile12 Downloads (Pure)
Activities
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Nationaal Congres Praktische Pediatrie 2024
Schuurhof, A. (Invited speaker)
8 Nov 2024Activity: Participating in or organising an event › Participation in conference › Academic
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APLS bij SSHK
Schuurhof, A. (Organiser)
23 Sept 2024 → 25 Sept 2024Activity: Participating in or organising an event › Participation in workshop, seminar, course › Academic
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Timing of cerebral damage in molybdenum cofactor deficiency: a meta-analysis of case reports
van Hasselt, P. (Speaker), Ferreira, E. (Speaker), Hofstede, F. (Speaker), Siepel, H. (Speaker), Lichtenbelt, K. (Speaker), Pistorius, L. (Speaker), Wamelink, M. M. C. (Speaker), de Sain-van der Velden, M. (Speaker), Nikkels, P. (Speaker), Lequin, M. (Speaker), de Vries, L. (Speaker) & van der Crabben, S. (Speaker)
3 Sept 2024 → 6 Sept 2024Activity: Talk or presentation › Oral presentation › Academic
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Prizes
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Elisabeth Steyn Parvé Programma
Nijhof, S. (Recipient), 1 Jan 2018
Prize: Prize (including medals and awards)
Press/Media
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Na Down is dit het meest voorkomende syndroom, toch heb je er waarschijnlijk nog nooit van gehoord
7/05/24
1 Media contribution
Press/Media: Expert Comment
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Jasper (15) heeft 22q11: een syndroom dat veel voorkomt, maar bijna niemand kent
26/01/22
1 Media contribution
Press/Media: Expert Comment