!!Research output per year
!!Research output per year
Persoonlijk profiel
Expertise
ASO Medische Genetica
Vingerafdruk
Verdiep u in de onderzoeksgebieden waarop Sophie Uyttebroeck 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
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Comparison of population-based carrier frequency and prevalence with reported data for glycogen storage disorders
Uyttebroeck, S., Boeykens, F., Dequeker, B., Hes, F. J. & Gheldof, A., 13 jun. 2026, (Unpublished). 1 blz.Onderzoeksoutput: Poster
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Dominant and recessive ATOH1 variants cause distinct neurodevelopmental disorders with hearing loss
Bertola, N., Blondiaux, E., Harion, M., Dorboz, I., Passemard, S., Mercier, S., Conrad, S., Cogné, B., Boyer, J., Uyttebroeck, S., Van Schil, K., Wuyts, W., Rendtorff, N. D., Bertelsen, M., Mey, K., Blanc, P., Champ, J., Boespflug-Tanguy, O., Cantagrel, V. & Burglen, L. & 1 anderen, , 5 feb. 2026, In: American Journal of Human Genetics. 113, 2, blz. 342-361 20 blz., PMID 370475.Onderzoeksoutput: Article › peer review
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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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A first case of desmin-related myofibrillar myopathy due to inheritance from a confirmed mosaic asymptomatic carrier
Uyttebroeck, S., Vlaeminck, J., De Schutter, E., Cordenier, A., Wellekens, S. A., Ströker, E., De Rooms, K., Helsen, C., Hes, F. J. & Giron, P., 14 mrt. 2025, (Unpublished). 1 blz.Onderzoeksoutput: Poster
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Case Report: A first case of desmin-related myofibrillar myopathy due to inheritance from a confirmed mosaic asymptomatic carrier
Vlaeminck, J., Uyttebroeck, S., De Schutter, E., Cordenier, A., Wellekens, S., Ströker, E., De Rooms, K., Helsen, C., Hes, F. J. & Giron, P., 18 jun. 2025, In: Frontiers in Genetics. 16, blz. 1-8 8 blz., 1597851.Onderzoeksoutput: Article › peer review
Open AccessBestand4 Downloads (Pure)
Activiteiten
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Second Case Based meeting of the Belgian Council on Cardiogenomics
Uyttebroeck, S. (Participant)
7 mei 2026Activiteit: Participation in workshop, seminar
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European Society of Human Genetics (Externe Organisatie)
Hes, F. J. (Member), Giron, P. (Member), Polsler, L. (Member), Vantroys, E. (Member), Uyttebroeck, S. (Member), Rossel, T. G. A. A. G. (Member), Van Berkel, K. (Member), Vlaeminck, J. (Member), Helsen, C. (Member), Fieuw, A. (Member), De Schutter, E. (Member) & Gheldof, A. (Member)
1 jan. 2026 → 1 jan. 2027Activiteit: Membership of external research organisation
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59th ESHG Conference
Hes, F. J. (Participant), Giron, P. (Participant), Polsler, L. (Participant), Vantroys, E. (Participant), Uyttebroeck, S. (Participant), Rossel, T. G. A. A. G. (Participant), Van Berkel, K. (Participant), Vlaeminck, J. (Participant), Helsen, C. (Participant), Fieuw, A. (Participant), Verheye, E. (Participant) & De Schutter, E. (Participant)
13 jun. 2026 → 16 jun. 2026Activiteit: Participation in conference
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Symposium Zeldzame Ziekten
Uyttebroeck, S. (Participant) & Vanderstraeten, V. (Participant)
14 okt. 2025Activiteit: Participation in conference
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Research Symposium: Beyond DNA - Exploring the psychosocial and ethical dimensions of genetic testing
Uyttebroeck, S. (Participant)
4 sep. 2025Activiteit: Participating in or organizing an event at an external academic organisation
Scriptie
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Investigating the glucose-dependent regulation of COL13A1 in Pompe Disease
Uyttebroeck, S. (Co-promotor), Alvarez Flores, X. ((PhD) Student) & Gheldof, A. (Promotor), 2025Scriptie/Masterproef: Master's Thesis