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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A novel KCNK9 missense variant outside the classic p.Gly236 substitution causes Birk Barel syndrome
Uyttebroeck, S., Wassenberg, T., Michotte, A., Cooreman, R., Keymolen, K., Hes, F. J. & Poelsler, L., 17 Sep 2021.Research output: Unpublished contribution to conference › Poster
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Novel PIEZO2mutation in a new born with congenital arthrogryposis multiplex
Uyttebroeck, S., Van de Voorde, S. R., Gheldof, A., Smeets, N. M. G., Cools, F., Andrzejewski, A. C., Keymolen, K., Hes, F. J. & Dimitrov, B., 17 Sep 2021, (Unpublished).Research output: Unpublished contribution to conference › Poster
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Novel PIEZO2 mutation in a new born with congenital arthrogryposis multiplex
Uyttebroeck, S., Van de Voorde, S. R., Gheldof, A., Smeets, N. M. G., Cools, F., Andrzejewski, A. C., Keymolen, K., Hes, F. J. & Dimitrov, B., 21 Sep 2021, EuroDysmorphology: 31th EUROPEAN MEETING ON DYSMORPHOLOGY . p. 22-23 1 p.Research output: Chapter in Book/Report/Conference proceeding › Meeting abstract (Book)
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Patient with macrocephaly and hypopigmented skin was diagnosed with Smith-Kingsmore syndrome after skin biopsy.
Uyttebroeck, S., Keymolen, K., Sammels, E., Hes, F. J. & Poelsler, L., 19 Nov 2021.Research output: Unpublished contribution to conference › Unpublished abstract
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Variants in DGAT1 causing enteropathy: a case report and review of the literature
Bijker, L. E., Uyttebroeck, S., Hauser, B., Vandenplas, Y. & Huysentruyt, K., 4 Dec 2021, In : Belgian Journal of Paediatrics. 23, 4, p. 275-279 5 p.Research output: Contribution to journal › Article
Activities
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Voordracht ASO Oogheelkunde: Oftalmogenetica
Sophie Uyttebroeck (Participant)3 Feb 2022Activity: Participating in or organising an event › Participation in workshop, seminar
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19th Annual Meeting: European Cystic Fibrosis SocietyDiagnostic Network Working Group
Sophie Uyttebroeck (Participant)9 Feb 2022 → 11 Feb 2022Activity: Participating in or organising an event › Participation in conference
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22nd annual joint meeting BeSHG & NVHG
Frederik Jan Hes (Participant), Ingeborg Liebaers (Participant), Mary-Louise Bonduelle (Participant), Dirk De Smedt (Participant), Sophie Uyttebroeck (Participant), Stefanie Rosa Van de Voorde (Participant), Ileen Slegers (Participant), Annelore Van Der Kelen (Participant), Thomy de Ravel (Participant), Veronik Hutse (Participant), Julie Nekkebroeck (Participant), Aranza Cortés Jáuregui (Participant), Pascale De Becker (Participant), Freya Vaeyens (Participant), Bart Dequeker (Participant), Sara Seneca (Participant), Ann Van Den Bogaert (Participant), Eva Sammels (Participant), Annelies Fieuw (Participant), Alexander Gheldof (Participant), Catharina Olsen (Participant), Sonia Van Dooren (Participant), Kim Van Berkel (Participant), Boyan Dimitrov (Participant), Rani Cooreman (Participant), Saar Van Pottelberghe (Participant), Jelle Vlaeminck (Participant), Randy Osei (Participant), Christiane Winter (Participant)21 Apr 2022 → 22 Apr 2022Activity: Participating in or organising an event › Participation in conference
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5th Symposium: "Care of the fetal patient"
Ileen Slegers (Participant), Kim Van Berkel (Participant), Stefanie Rosa Van de Voorde (Participant), Sophie Uyttebroeck (Participant)9 Jun 2022Activity: Participating in or organising an event › Participation in conference
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Novel PIEZO2mutation in a new born with congenital arthrogryposis multiplex
Sophie Uyttebroeck (Speaker)23 Sep 2021 → 25 Sep 2021Activity: Talk or presentation › Talk or presentation at a conference