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Affichage: 4 résultats.
    • Article de périodique
    Misdiagnosis as asphyxiating thoracic dystrophy and CMV-associated haemophagocytic lymphohistiocytosis in Shwachman-Diamond syndrome
    Schaballie, Heidi Renard, Marleen Vermylen, Christiane[UCL] scheers, Isabelle[UCL] Revencu, Nicole[UCL] Regal, Luc Cassiman, David Sevenants, Lieve Hoffman, Ilse Corveleyn, Anniek Bordon, Victoria Haerynck, Filomeen Allegaert, Karel De Boeck, Kris Roskams, Tania Boeckx, Nancy Bossuyt, Xavier Meyts, Isabelle (2013) European Journal of Pediatrics — Vol. 172, no. 5, p. 613-622 (2013)
    • Article de périodique
    The diagnostic value of next generation sequencing in familial nonsyndromic congenital heart defects.
    Jia, Yaojuan Louw, Jacoba J Breckpot, Jeroen Callewaert, Bert Barréa, Catherine[UCL] Sznajer, Yves[UCL] Gewillig, Marc Souche, Erika Dehaspe, Luc Vermeesch, Joris Robert Lambrechts, Diether Devriendt, Koenraad Corveleyn, Anniek (2015) American Journal of Medical Genetics. Part A — Vol. 167, no. 8, p. 1822-1829 (2015)
    • Article de périodique
    Heterozygous α1-antitrypsin Z allele mutation in presumed healthy donor livers used for transplantation
    Roelandt, Philip Dobbels, Pieter Komuta, Mina Corveleyn, Anniek Emonds, Marie-Paule Roskams, Tania Aerts, Raymond Monbaliu, Diethard Libbrecht, Louis[UCL] Laleman, Wim Verslype, Chris Van Steenbergen, Werner van der Merwe, Schalk Pirenne, Jacques Nevens, Frederik Cassiman, David (2013) European Journal of Gastroenterology and Hepatology — Vol. 25, no.11, p. 1335-1339 (2013)
    • Article de périodique
    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)