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Clinical similarities and differences of patients with X-linked lymphoproliferative syndrome type 1 (XLP-1/SAP deficiency) versus type 2 (XLP-2/XIAP deficiency). by Pachlopnik Schmid, J, Canioni, D, Moshous, D, Touzot, F, Mahlaoui, N, Hauck, F, Kanegane, H, Lopez-Granados, E, Mejstrikova, E, Pellier, I, Galicier, L, Galambrun, C, Barlogis, V, Bordigoni, P, Fourmaintraux, A, Hamidou, M, Dabadie, A, Le Deist, F, Haerynck, F, Ouachée-Chardin, M, Rohrlich, P, Stephan, J, Lenoir, C, Rigaud, S, Lambert, N
Published 2011Journal article -
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Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated RPSA exons by Bolze, A, Boisson, B, Bosch, B, Antipenko, A, Bouaziz, M, Sackstein, P, Chaker-Margot, M, Barlogis, V, Briggs, T, Colino, E, Elmore, A, Fischer, A, Genel, F, Hewlett, A, Jedidi, M, Kelecic, J, Krüger, R, Ku, C, Kumararatne, D, Lefevre-Utile, A, Loughlin, S, Mahlaoui, N, Markus, S, Garcia, J, Nizon, M, Oleastro, M, Pac, M, Picard, C, Pollard, A, Rodriguez-Gallego, C, Thomas, C, Von Bernuth, H, Worth, A, Meyts, I, Risolino, M, Selleri, L, Puel, A, Klinge, S, Abel, L, Casanova, J
Published 2018Journal article