Research output per year
Research output per year
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Dive into the research topics where Sophie Uyttebroeck is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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Collaborations and top research areas from the last five years
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
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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E., Cordenier, A., Wellekens, S. A., Ströker, E., De Rooms, K., Helsen, C., Hes, F. J. & Giron, P., 14 Mar 2025, (Unpublished). 1 p.Research output: Unpublished contribution to conference › Poster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. A., Ströker, E., De Rooms, K., Helsen, C., Hes, F. J. & Giron, P., 18 Jun 2025, In: Frontiers in Genetics. 16, p. 1-8 8 p.Research output: Contribution to journal › Article › peer-review
Open Access -
Oocyte/zygote/embryo maturation arrest: a clinical study expanding the phenotype of NOBOX variants
Van Der Kelen, A., Uyttebroeck, S., Van de Voorde, S. R., Picchetta, L., Segers, I., Vlaeminck, J., Dequeker, B., Giron, P., Capalbo, A., Verpoest, W., Hes, F. J., Verdyck, P. & Gheldof, A., Mar 2025, In: Journal of Assisted Reproduction and Genetics. 42, 3, p. 763-771 9 p.Research output: Contribution to journal › Article › peer-review
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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Uyttebroeck, S., Vo Ngoc, D. T. L., Osei, R., Dequeker, B., Seneca, S., Hes, F. J. & Gheldof, A., 12 Apr 2024, (Unpublished).Research output: Unpublished contribution to conference › Poster
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Oocyte/zygote/embryo maturation arrest: a functional and clinical study expanding the phenotype of NOBOX variants
Van Der Kelen, A., Uyttebroeck, S., Van de Voorde, S., Slegers, I., Vlaeminck, J., Verdyck, P., Dequeker, B., Giron, P., Verpoest, W., Hes, F. J. & Gheldof, A., 2024, In: Hum Reprod. 39, Supplement 1, p. I430 1 p., deae108.846.Research output: Contribution to journal › Meeting abstract (Journal)
Activities
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Dag van de Zorg 2024
Philippe Giron (Member of programme committee), Sophie Uyttebroeck (Member of programme committee), Frone Anoek Meersschaert (Member of programme committee), Sara Seneca (Member of programme committee), Alexander Gheldof (Member of programme committee), Jelle Vlaeminck (Member of programme committee) & Dirk De Smedt (Member of programme committee)
17 Mar 2024Activity: Participating in or organising an event › Participating in or organizing a festival/exhibition
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Cardio Genomics Conference 2024
Jelle Vlaeminck (Participant), Elke De Schutter (Participant), Sophie Uyttebroeck (Participant) & Saar Van Pottelberghe (Participant)
6 Dec 2024 → 7 Dec 2024Activity: Participating in or organising an event › Participation in conference
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24th Annual Symposium BeSHG
Kathelijn Keymolen (Chair), Alexander Gheldof (Participant), Jacques De Grève (Participant), Helena Deryckere (Participant), Boyan Dimitrov (Participant), Ingeborg Liebaers (Participant), Pascale De Becker (Participant), Christiane Winter (Participant), Rani Cooreman (Participant), Nymfa Vandermaelen (Participant), Ann Van Den Bogaert (Participant), Yanissa Van Buggenhout (Participant), Kelly De Rooms (Participant), Chloë Tina M Vonckx (Participant), Inez Bogaerts (Participant), Kim De Hauwere (Participant), Martine De Rycke (Participant), Elke De Ridder (Participant), Julie Nekkebroeck (Participant), Lauren Van Droogenbroeck (Participant), Sara Seneca (Participant), Bart Dequeker (Participant), Kim Van Berkel (Participant), Callaerts Annick (Participant), Sarah Peeters (Participant), Elia Fernandez Gallardo (Participant), Elke De Schutter (Participant), Toon Janssen (Participant), Catharina Olsen (Participant), Frederik Jan Hes (Participant), Sophie Bessems (Participant), Dirk De Smedt (Participant), Sofia Papadimitriou (Participant), Frone Anoek Meersschaert (Participant), Pieter Verdyck (Participant), Philippe Giron (Participant), Nathalie Eduarda M Vanden Eynde (Participant), Annelore Van Der Kelen (Participant), Laura Polsler (Participant), Esther Scheirlynck (Participant), Stefanie Rosa Van de Voorde (Participant), Thomy de Ravel (Participant) & Sophie Uyttebroeck (Participant)
12 Apr 2024Activity: Participating in or organising an event › Participation in conference
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European Society of Human Genetics
Ileen Slegers (Participant), Eva Sammels (Participant), Laura Polsler (Participant), Kim Van Berkel (Participant), Stefanie Rosa Van de Voorde (Participant), Frederik Jan Hes (Participant), Sophie Uyttebroeck (Participant), Elise Vantroys (Participant) & Kathelijn Keymolen (Participant)
1 Jun 2024 → 4 Jun 2024Activity: Participating in or organising an event › Participation in conference
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Molecular insights into Pompe Disease: a study of PPARgamma, COL13A1 and cellular glycogen metabolism
Sophie Uyttebroeck (Presenter), D.T. Laura Vo Ngoc (Contributor), Randy Osei (Contributor), Bart Dequeker (Contributor), Sara Seneca (Contributor), Frederik Jan Hes (Contributor) & Alexander Gheldof (Contributor)
1 Jun 2024 → 4 Jun 2024Activity: Talk or presentation › Talk or presentation at a conference