User menu

Accès à distance ? S'identifier sur le proxy UCLouvain

Search

Displaying 3 results.
    • Journal article
    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)
    • Journal article
    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)
    • Journal article
    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)