Showing 1 - 5 results of 5 for search 'Bolze, A', query time: 0.84s
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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 -
3
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 -
4
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 -
5
Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19 by Matuozzo, D, Talouarn, E, Marchal, A, Zhang, P, Manry, J, Seeleuthner, Y, Zhang, Y, Bolze, A, Chaldebas, M, Milisavljevic, B, Gervais, A, Bastard, P, Asano, T, Bizien, L, Barzaghi, F, Abolhassani, H, Abou Tayoun, A, Aiuti, A, Alavi Darazam, I, Allende, LM, Alonso-Arias, R, Arias, AA, Aytekin, G, Bergman, P, Bondesan, S, Bryceson, YT, Bustos, IG, Cabrera-Marante, O, Carcel, S, Carrera, P, Casari, G, Chaïbi, K, Colobran, R, Condino-Neto, A, Covill, LE, Delmonte, OM, El Zein, L, Flores, C, Gregersen, PK, Gut, M, Haerynck, F, Halwani, R, Hancerli, S, Hammarström, L, Hatipoğlu, N, Karbuz, A, Keles, S, Kyheng, C, Leon-Lopez, R, Franco, JL, Constantinescu, SN
Published 2023Journal article