Showing 1 - 7 results of 7 for search 'Mahlaoui N', query time: 0.03s
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Rpsamutations in isolated congenital asplenia (ICA): A ribosomopathy unveiled by Bosch, B, Bolze, A, Boisson, B, Antipenko, A, Itan, Y, Copley, R, Sackstein, P, Kini, U, Pollard, A, Kumararatne, D, Pac, M, Von Bernuth, H, Selleri, L, Puel, A, Picard, C, Mahlaoui, N, Casanova, J
Published 2017Conference item -
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Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia. by Bolze, A, Mahlaoui, N, Byun, M, Turner, B, Trede, N, Ellis, SR, Abhyankar, A, Itan, Y, Patin, E, Brebner, S, Sackstein, P, Puel, A, Picard, C, Abel, L, Quintana-Murci, L, Faust, SN, Williams, A, Baretto, R, Duddridge, M, Kini, U, Pollard, A, Gaud, C, Frange, P, Orbach, D, Emile, J
Published 2013Journal article -
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Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia by Bolze, A, Mahlaoui, N, Byun, M, Turner, B, Trede, N, Ellis, SR, Abhyankar, A, Itan, Y, Patin, E, Brebner, S, Sackstein, P, Puel, A, Picard, C, Abel, L, Quintana-Murci, L, Faust, SN, Williams, A, Baretto, R, Duddridge, M, Kini, U, Pollard, A, Gaud, C, Frange, P, Orbach, D, Emile, J
Published 2013Journal article -
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X-linked lymphoproliferative disease due to SAP/SH2D1A deficiency: a multicenter study on the manifestations, management and outcome of the disease. by Booth, C, Gilmour, K, Veys, P, Gennery, A, Slatter, M, Chapel, H, Heath, P, Steward, C, Smith, O, O'Meara, A, Kerrigan, H, Mahlaoui, N, Cavazzana-Calvo, M, Fischer, A, Moshous, D, Blanche, S, Pachlopnik Schmid, J, Latour, S, de Saint-Basile, G, Albert, M, Notheis, G, Rieber, N, Strahm, B, Ritterbusch, H, Lankester, A
Published 2011Journal article -
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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