Vingerafdruk
- 1 Soortgelijke profielen
Samenwerkingen en hoofdonderzoeksgebieden uit de afgelopen vijf jaar
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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 AccessBestand1 Downloads (Pure) -
Transcriptional profiling reveals glucose-dependent regulation of COL13A1 mRNA in Pompe patients: Prospect for a novel disease mechanism
Uyttebroeck, S., Ngoc, D. V., Osei, R., Dohr, K., Giron, P., Dequeker, B. J. H., Seneca, S., Sermon, K., Hes, F. J. & Gheldof, A., jan. 2026, In: Genes&Diseases. 13, 1, 4 blz., 101738.Onderzoeksoutput: Article › peer review
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Correlations of ventricular fibrillation and monomorphic ventricular tachycardia with SCN5A mutations and other clinical variables in Brugada syndrome
Pannone, L., Bisignani, A., Osei, R., Gauthey, A., Sorgente, A., Monaco, C., Della Rocca, D. G., Del Monte, A., Strazdas, A., Mojica, J., Al Housari, M., Miraglia, V., Mouram, S., Vetta, G., Paparella, G., Doundoulakis, I., Overeinder, I., Bala, G., Almorad, A. & Ströker, E. & 9 anderen, , mei 2025, In: Heart Rhythm. 22, 5, blz. 1355-1357 3 blz.Onderzoeksoutput: Article › peer review
Open AccessBestand1 Citaat (Scopus)9 Downloads (Pure) -
COL13A1 connects glycogen accumulation with the phenotype in Pompe disease
Uyttebroeck, S., Vo Ngoc, D. T. L., Osei, R., Dequeker, B., Seneca, S., Hes, F. J. & Gheldof, A., 12 apr. 2024, (Unpublished).Onderzoeksoutput: Poster
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Genetic Testing in Brugada Syndrome: A 30-Year Experience
Pannone, L., Bisignani, A., Osei, R., Gauthey, A., Sorgente, A., Monaco, C., Della Rocca, D. G., Del Monte, A., Strazdas, A., Mojica, J., Al Housari, M., Miraglia, V., Mouram, S., Vetta, G., Paparella, G., Ramak, R., Overeinder, I., Bala, G., Almorad, A. & Ströker, E. & 9 anderen, , 1 apr. 2024, In: Circulation: Arrhythmia and Electrophysiology. 17, 4, 8 blz., e012374.Onderzoeksoutput: Article › peer review
Open AccessBestand16 Citaten (Scopus)13 Downloads (Pure)
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Molecular insights into Pompe Disease: a study of PPARgamma, COL13A1 and cellular glycogen metabolism
Uyttebroeck, S. (Presenter), Vo Ngoc, D. T. L. (Contributor), Osei, R. (Contributor), Dequeker, B. (Contributor), Seneca, S. (Contributor), Hes, F. J. (Contributor) & Gheldof, A. (Contributor)
1 jun. 2024 → 4 jun. 2024Activiteit: Talk or presentation at a conference
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22nd annual joint meeting BeSHG & NVHG
Hes, F. J. (Participant), Liebaers, I. (Participant), Bonduelle, M.-L. (Participant), De Smedt, D. (Participant), Uyttebroeck, S. (Participant), Van de Voorde, S. R. (Participant), Slegers, I. (Participant), Van Der Kelen, A. (Participant), de Ravel, T. (Participant), Hutse, V. (Participant), Nekkebroeck, J. (Participant), Cortés Jáuregui, A. (Participant), De Becker, P. (Participant), Vaeyens, F. (Participant), Dequeker, B. (Participant), Seneca, S. (Participant), Van Den Bogaert, A. (Participant), Sammels, E. (Participant), Fieuw, A. (Participant), Gheldof, A. (Participant), Olsen, C. (Participant), Van Dooren, S. (Participant), Van Berkel, K. (Participant), Dimitrov, B. (Participant), Cooreman, R. (Participant), Van Pottelberghe, S. (Participant), Vlaeminck, J. (Participant), Osei, R. (Participant) & Winter, C. (Participant)
21 apr. 2022 → 22 apr. 2022Activiteit: Participation in conference