Projecten per jaar
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- 1 Soortgelijke profielen
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Projecten
- 1 Actief
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ANI299: Combinatie van exoom- en transcriptoomgegevens om de genetische basis van de lissencephalis te ontrafelen
Jansen, A., Stouffs, K., Olsen, C. & Rijckmans, E.
1/10/21 → 1/10/23
Project: Fundamenteel
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Activating RAC1 variants in the switch II region cause a developmental syndrome and alter neuronal morphology
Banka, S., Bennington, A., Baker, M. J., Rijckmans, E., Clemente, G. D., Ansor, N. M., Sito, H., Prasad, P., Anyane-Yeboa, K., Badalato, L., Dimitrov, B., Fitzpatrick, D., Hurst, A. C. E., Jansen, A. C., Kelly, M. A., Krantz, I., Rieubland, C., Ross, M., Rudy, N. L., Sanz, J. & 5 anderen, , 19 dec 2022, In: Brain. 145, 12, blz. 4232-4245 14 blz.Onderzoeksoutput: Article › peer review
Open Access -
Malformations of cerebral development and clues from the peripheral nervous system: A systematic literature review
Rijckmans, E., Stouffs, K., Jansen, A. C. & Brock, S., mrt 2022, In: European Journal of Paediatric Neurology. 37, blz. 155-164 10 blz.Onderzoeksoutput: Article › peer review
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Two years follow up of a patient with a de novo RAC1 gene syndrome
Cortés Jáuregui, A., Dimitrov, B., Stouffs, K., Keymolen, K., Hes, F. J., Jansen, A. & Rijckmans, E., apr 2022.Onderzoeksoutput: Poster
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Causes and consequences of childhood obesity
Rijckmans, E., Van De Maele, K. & Gies, I., 2020, In: Belgian Journal of Paediatrics. 22, 4, blz. 210-212 3 blz.Onderzoeksoutput: Article › peer review
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Mini-Symposium on Short Bowel Syndrome
Charlotte Vercauteren (Organiser), Kim Vanderlinden (Organiser), Koen Huysentruyt (Organiser), Bruno Hauser (Participant), Wouter Michel S Musch (Participant), Tom Danau (Participant), Vikram Rao Bollineni (Participant), Aranza Cortés Jáuregui (Participant), Wouter Arthur Van den Berghe (Participant), Emma Daeninck (Participant), Ann Casteels (Participant), Elisabeth De Greef (Participant), Charlotte De Geyter (Participant), Jesse Vanbesien (Participant), Jana Barbieur (Participant), Abdelhalim Ouald Chaib (Participant), Ellen Rijckmans (Participant), Katleen Christiane De Smedt (Participant), Ine Hoogwijs (Participant), Toon De Backer (Participant), Nadia Najafi (Participant), Marlies Destoop (Participant), Gertjan Peeters (Participant), Tine Opsomer (Participant), Reiner Mauel (Participant), Inge De Mey (Participant), Roel Lemmens (Participant), Anton Karel Martens (Participant), Marjolein Adilia G Billen (Participant), Aurélie Carine Andrzejewski (Participant), Panagiotis Andreas H Flamée (Participant), Saskia Vanden Eynde (Participant), Eva De Wachter (Participant), Sarah Violon (Participant), Thierry Devreker (Participant), Rani Jana L Kronenberger (Participant), Audrey Devos (Participant), Maxim Karolien Gevers (Participant), Wissam Kahouaji Oujaidan (Participant), Sarah Eylenbosch (Participant), Christiaan Guido Desmet (Participant), Laurine Steurbaut (Participant), Nienke Knockaert (Participant), Tania Mahler (Participant) & Geneviève Veereman (Participant)
24 feb 2022Activiteit: Participation in conference
Bestand -
Project Outline Presentation on EPNS Research Meeting
Ellen Rijckmans (Speaker)
25 nov 2021Activiteit: 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
Auteur: Rijckmans, E., Bonduelle, M., Keymolen, K. & Van Den Bogaert, A., 2018Scriptie/Masterproef: Master's Thesis