Projects per year
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Collaborations and top research areas from the last five years
Projects
- 1 Finished
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ANI299: Combining exome and transcriptome data to unravel the genetic basis of the lissencephalies
Jansen, A. (Administrative Promotor), Stouffs, K. (Co-Promotor), Olsen, C. (Co-Promotor) & Rijckmans, E. (PI (Promotor, Principal Investigator))
1/10/21 → 1/10/25
Project: Fundamental
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Phenotypic and genotypic insights, counseling strategies, and follow-up in 24 individuals with filamin a deficiency: findings from a retrospective cohort study
Rijckmans, E., De Strooper, L. P., Keymolen, K., Rosenblum, J., Loeys, B., Meuwissen, M., Jansen, A. C. & Stouffs, K., Oct 2025, In: Acta Neurologica Belgica. 125, 5, p. 1347-1356 10 p., PMID: 40758172.Research output: Contribution to journal › Article › peer-review
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Diagnostic work-up in malformations of cortical development
Rijckmans, E., Stouffs, K. & Jansen, A. C., Aug 2024, In: Developmental Medicine and Child Neurology. 66, 8, p. 974-989 16 p.Research output: Contribution to journal › Article › peer-review
Open AccessFile6 Citations (Scopus)147 Downloads (Pure) -
Macrocephaly? Do not Forget SUFU
Rijckmans, E., Bordon, V., de Ravel, T., Baert, E., Jansen, A. C. & Stouffs, K., Feb 2024, In: Pediatric Neurology. 151, p. 34-36 3 p.Research output: Contribution to journal › Article › peer-review
Open AccessFile1 Citation (Scopus)14 Downloads (Pure) -
PW 31. Learning points from a cross-sectional cohort study in individuals with pathogenic variants in FLNA
Rijckmans, E., De Strooper, L. P., Keymolen, K., Jansen, A. & Stouffs, K., Mar 2024.Research output: Unpublished contribution to conference › Poster
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Respiratory distress in a young child? Not always infectious!
Rijckmans, E., Vergaelen, K. & Smeets, N. M. G., Mar 2024.Research output: Unpublished contribution to conference › Poster
Activities
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16th European Paediatric Neurology Society Congress (EPNS)
Wassenberg, T. (Participant), Seynaeve, L. (Participant), Rijckmans, E. (Participant), Waeterschoot, L. (Participant) & Hoogwijs, I. (Participant)
8 Jul 2025 → 12 Jul 2025Activity: Participating in or organising an event › Participation in conference
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Lenteworkshops Kinderuniversiteit
Rijckmans, E. (Speaker)
2 May 2024Activity: Talk or presentation › Talk at a school event
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EPNS (European Paediatric Neurology Society) Research meeting
Rijckmans, E. (Speaker)
17 Oct 2024 → 18 Oct 2024Activity: Talk or presentation › Talk or presentation at a conference
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52nd Congress of the BVK-SBP
Rijckmans, E. (Participant)
14 Mar 2024 → 15 Mar 2024Activity: Participating in or organising an event › Participation in conference
Thesis
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The use of gen panels in mendeliome sequencing in patients with intellectual disability, neurodevelopmental disorders and epilepsy. A new query to filter unique Highlander variants with high predicted pathogenicity in genes not incorporated in the applied gene panels
Rijckmans, E. ((PhD) Student), Bonduelle, M.-L. (Advisor), Keymolen, K. (Promotor) & Van Den Bogaert, A. (Co-promotor), 2018Student thesis: Master's Thesis