!!Projects per year
Vingerafdruk
Verdiep u in de onderzoeksgebieden waarop Ellen Rijckmans actief is. Deze onderwerplabels komen uit het werk van deze persoon. Samen vormen ze een unieke vingerafdruk.
- 1 Soortgelijke profielen
Samenwerkingen en hoofdonderzoeksgebieden uit de afgelopen vijf jaar
Recente externe samenwerking op landen-/regioniveau. Duik in de details door op de stippen te klikken of
Projecten
- 1 Afgelopen
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ANI299: Combinatie van exoom- en transcriptoomgegevens om de genetische basis van de lissencephalis te ontrafelen
Jansen, A. (Administrative Promotor), Stouffs, K. (Co-Promoter), Olsen, C. (Co-Promoter) & Rijckmans, E. (PI (Promotor, Principal Investigator))
1/10/21 → 1/10/25
Project: Fundamenteel
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RNA sequencing offers new diagnostic opportunities in neurodevelopmental disorders: a systematic review
Rosenblum, J., Rijckmans, E., Osei, R., Janssens, K., Mateiu, L., Olsen, C., Stouffs, K., Meuwissen, M. & Jansen, A. C., apr. 2026, In: Genetics in Medicine : Official Journal of the American College of Medical Genetics. 28, 4, 25 blz., 101666.Onderzoeksoutput: Scientific review › peer review
Open AccessBestand2 Citaten (Scopus)9 Downloads (Pure) -
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., okt. 2025, In: Acta Neurologica Belgica. 125, 5, blz. 1347-1356 10 blz., PMID: 40758172.Onderzoeksoutput: Article › peer review
Open AccessBestand3 Downloads (Pure) -
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, blz. 974-989 16 blz.Onderzoeksoutput: Article › peer review
Open AccessBestand11 Citaten (Scopus)214 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, blz. 34-36 3 blz.Onderzoeksoutput: Article › peer review
Open AccessBestand2 Citaten (Scopus)34 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., mrt. 2024.Onderzoeksoutput: Poster
Activiteiten
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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. 2025Activiteit: Participation in conference
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Lenteworkshops Kinderuniversiteit
Rijckmans, E. (Speaker)
2 mei 2024Activiteit: Talk at a school event
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52nd Congress of the BVK-SBP
Rijckmans, E. (Participant)
14 mrt. 2024 → 15 mrt. 2024Activiteit: Participation in conference
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EPNS (European Paediatric Neurology Society) Research meeting
Rijckmans, E. (Speaker)
17 okt. 2024 → 18 okt. 2024Activiteit: Talk or presentation at a conference
Scriptie
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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), 2018Scriptie/Masterproef: Master's Thesis