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Displaying 7 results.
    • Journal article
    Heterozygous pathogenic variants involving cause a new skeletal disorder resembling cleidocranial dysplasia.
    Beyltjens, Tessi Boudin, Eveline Revencu, Nicole[UCL] Boeckx, Nele Bertrand, Miriam Schütz, Leon Haack, Tobias B Weber, Axel Biliouri, Eleni Vinkšel, Mateja Zagožen, Anja Peterlin, Borut Pai, Shashidhar Telegrafi, Aida Henderson, Lindsay B Ells, Courtney Turner, Lesley Wuyts, Wim Van Hul, Wim Hendrickx, Gretl Mortier, Geert R (2023) Journal of medical genetics — Vol. 60, no.5, p. 498-504 (2023)
    • Journal article
    The <i>SLC40A1</i> R178Q mutation is a recurrent cause of hemochromatosis and is associated with a novel pathogenic mechanism
    Ka, Chandran Guellec, Julie Pepermans, Xavier[UCL] Kannengiesser, Caroline Ged, Cécile Wuyts, Wim Cassiman, David de Ledinghen, Victor Varet, Bruno de Kerguenec, Caroline Oudin, Claire Gourlaouen, Isabelle Lefebvre, Thibaud Férec, Claude Callebaut, Isabelle Le Gac, Gérald (2018) Haematologica — Vol. 103, no.11, p. 1796-1805 (2018)
    • Journal article
    Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome.
    Bowen, Margot E Boyden, Eric D Holm, Ingrid A Campos-Xavier, Belinda Bonafé, Luisa Superti-Furga, Andrea Ikegawa, Shiro Cormier-Daire, Valerie Bovée, Judith V Pansuriya, Twinkal C de Sousa, Sérgio B Savarirayan, Ravi Andreucci, Elena Vikkula, Miikka[UCL] Garavelli, Livia Pottinger, Caroline Ogino, Toshihiko Sakai, Akinori Regazzoni, Bianca M Wuyts, Wim Sangiorgi, Luca Pedrini, Elena Zhu, Mei Kozakewich, Harry P Kasser, James R Seidman, Jon G Kurek, Kyle C Warman, Matthew L (2011) PLoS Genetics — Vol. 7, no.4, p. e1002050 (2011)
    • Journal article
    A de novo subtelomeric monosomy 11q (11q24.2-qter) and trisomy 20q (20q13.3-qter) in a girl with findings compatible with Jacobsen syndrome: case report and review.
    Courtens, Winnie[UCL] Wauters, Jan Wojciechowski, Marek Reyniers, Edwin Scheers, Stefan van Luijk, Rob Rooms, Liesbeth Kooy, Frank Wuyts, Wim (2007) Clinical dysmorphology — Vol. 16, no. 4, p. 231-9 (2007)
    • Journal article
    Frequency of Participation in External Quality Assessment Programs Focused on Rare Diseases: Belgian Guidelines for Human Genetics Centers.
    Lantoine, Joséphine Brysse, Anne Dideberg, Vinciane Claes, Kathleen Symoens, Sofie Coucke, Wim Benoit, Valérie Rombout, Sonia De Rycke, Martine Seneca, Sara Van Laer, Lut Wuyts, Wim Corveleyn, Anniek Van Den Bogaert, Kris Rydlewski, Catherine Wilkin, Françoise Ravoet, Marie[UCL] Fastré, Elodie[UCL] Capron, Arnaud Vandevelde, Nathalie Monique (2021) JMIR medical informatics — Vol. 9, no.7, p. e27980 [1-10] (2021)
    • Journal article
    The IgA-pIgR System Is Dysregulated in IPF.
    Plante-Bordeneuve, Thomas[UCL] Bertrand, Youri Lecocq, Marylène Hoton, Delphine Fillée, Catherine Lacroix, Valérie Rondelet, Benoît[UCL] Wuyts, Wim Bouzin, Caroline Pilette, Charles Froidure, Antoine (2024) American journal of respiratory and critical care medicine — Vol. 210, no. 6, p. 841-844 (2024)
    • Journal article
    Prognostic value of cardiovascular magnetic resonance in patients with biopsy-proven systemic sarcoidosis.
    Flamée, Louis Symons, Rolf Degtiarova, Ganna Dresselaers, Tom Gheysens, Olivier[UCL] Wuyts, Wim Van Cleemput, Johan Bogaert, Jan (2020) European radiology — Vol. 30, no.7, p. 3702-3710 (2020)