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Affichage: 5 résultats.
    • Article de périodique
    Mutation analysis in adenylosuccinate lyase deficiency: eight novel mutations in the re-evaluated full ADSL coding sequence.
    Marie, S. Cuppens, Harry[UCL] Heuterspreute, M Jaspers, Martine[UCL] Tola, E Z Gu, X X Legius, Eric[UCL] Vincent, Marie-Françoise[UCL] Jaeken, J. Cassiman, J J Van den Berghe, Georges[UCL] (1999) Human mutation — Vol. 13, no. 3, p. 197-202 (1999)
    • Article de périodique
    Mutations of the cystic fibrosis gene and intermediate sweat chloride levels in children
    Lebecque, Patrick[UCL] Leal, Teresinha[UCL] De Boeck, Christiane Jaspers, Martine[UCL] Cuppens, Harry[UCL] Cassiman, Jean-Jacques (2002) American Journal of Respiratory and Critical Care Medicine — Vol. 165, no. 6, p. 757-761 (2002)
    • Article de périodique
    Mutations in the Amiloride-Sensitive Epithelial Sodium Channel in Patients With Cystic Fibrosis-Like Disease
    Azad, Abul Kalam Rauh, Robert Vermeulen, Francois Jaspers, Martine Korbmacher, Judit Boissier, Brigitte Bassinet, Laurence Fichou, Yann des Georges, Marie Stanke, Frauke De Boeck, Kris Dupont, Lieven Balascakova, Miroslava Hjelte, Lena Lebecque, Patrick[UCL] Radojkovic, Dragica Castellani, Carlo Schwartz, Marianne Stuhrmann, Manfred Schwarz, Martin Skalicka, Veronika de Monestrol, Isabelle Girodon, Emmanuelle Férec, Claude Claustres, Mireille Tummler, Burkhard Cassiman, Jean-Jacques Korbmacher, Christoph Cuppens, Harry (2009) Human Mutation — Vol. 30, no. 7, p. 1093-1103 (2009)
    • Monographie
    Screening for Cystic Fibrosis in Belgium? A critical assessment
    Proesmans, Marijke[UCL] Cuppens, Harry[UCL] Vincent, Marie-Françoise[UCL] Palem, Alain De Boeck, Kris[UCL] Dierickx, Kris[UCL] Nys, Herman[UCL] Neyt, Mattias Vinck, Imgard Lebecque, Patrick[UCL] (2010)
    • Article de périodique
    Primary ciliary dyskinesia: critical evaluation of clinical symptoms and diagnosis in patients with normal and abnormal ultrastructure.
    Boon, Mieke Smits, Anne Cuppens, Harry Jaspers, Martine Proesmans, Marijke Dupont, Lieven J Vermeulen, François[UCL] Van Daele, Sabine Malfroot, Anne Godding, Véronique[UCL] Jorissen, Mark De Boeck, Kris (2014) Orphanet Journal of Rare Diseases — Vol. 9, no.1, p. 11 (2014)