A mostrar 1 - 20 resultados de 20 para a pesquisa 'Casanova, J.', tempo de pesquisa: 0.04seg
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1
Human genetic and immunological determinants of critical COVID-19 pneumonia Por Zhang, Q, Bastard, P, Cobat, A, Casanova, J-L, Constantinescu, S
Publicado em 2022Journal article -
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A karyological study of the spirurid nematode Mastophorus muris (Nematoda: Spirocercidae) Por Špakulová M., Casanova J.C., Laplana Guillén N., Král'ová I.
Publicado em 2000-09-01
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Segmental Uniparental Disonny of Chromosome 12 Causing IRAK-4 Deficiency Por Prando, C, Vincent, Q, Puel, A, Picard, C, Chapel, H, Boisson-Dupuis, S, Abel, L, Casanova, J
Publicado em 2010Conference item -
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Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee Meeting in Budapest,... Por Notarangelo, L, Casanova, J, Conley, M, Chapel, H, Fischer, A, Puck, J, Roifman, C, Seger, R, Geha, R
Publicado em 2006Journal article -
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Paper alert. Immunology. Por Elliott, T, Bonneville, M, Kruisbeek, A, Walker, P, Glaichenhaus, N, Rowland-Jones, S, Casanova, J, Liu, Y, Wood, K, Bushell, A, Green, A
Publicado em 2001Journal article -
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A fast procedure for the detection of defects in Toll-like receptor signaling. Por von Bernuth, H, Ku, C, Rodriguez-Gallego, C, Zhang, S, Garty, B, Maródi, L, Chapel, H, Chrabieh, M, Miller, R, Picard, C, Puel, A, Casanova, J
Publicado em 2006Journal article -
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Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee. Por Geha, R, Notarangelo, L, Casanova, J, Chapel, H, Conley, M, Fischer, A, Hammarström, L, Nonoyama, S, Ochs, H, Puck, J, Roifman, C, Seger, R, Wedgwood, J
Publicado em 2007Journal article -
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Primary immunodeficiencies: 2009 update. Por Notarangelo, L, Fischer, A, Geha, R, Casanova, J, Chapel, H, Conley, M, Cunningham-Rundles, C, Etzioni, A, Hammartröm, L, Nonoyama, S, Ochs, H, Puck, J, Roifman, C, Seger, R, Wedgwood, J
Publicado em 2009Journal article -
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IRAK4 deficiency presenting with anti-NMDAR encephalitis and HHV6 reactivation Por Nishimura, S, Kobayashi, Y, Ohnishi, H, Moriya, K, Tsumura, M, Sakata, S, Mizoguchi, Y, Takada, H, Kato, Z, Sancho-Shimizu, V, Picard, C, Irani, S, Ohara, O, Casanova, J-L, Puel, A, Ishikawa, N, Okada, S, Kobayashi, M
Publicado em 2020Journal article -
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Rpsamutations in isolated congenital asplenia (ICA): A ribosomopathy unveiled Por 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
Publicado em 2017Conference item -
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Primary immunodeficiency diseases: An update on the classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency Por Al-Herz, W, Bousfiha, A, Casanova, J, Chapel, H, Conley, M, Cunningham-Rundles, C, Etzioni, A, Fischer, A, Franco, J, Geha, R, Hammarström, L, Nonoyama, S, Notarangelo, L, Ochs, H, Puck, J, Roifman, C, Seger, R, Tang, M
Publicado em 2011Journal article -
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A phenotypic approach for IUIS PID classification and diagnosis: guidelines for clinicians at the bedside. Por Bousfiha, A, Jeddane, L, Ailal, F, Al Herz, W, Conley, M, Cunningham-Rundles, C, Etzioni, A, Fischer, A, Franco, J, Geha, R, Hammarström, L, Nonoyama, S, Ochs, H, Roifman, C, Seger, R, Tang, M, Puck, J, Chapel, H, Notarangelo, L, Casanova, J
Publicado em 2013Journal article -
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A phenotypic approach for IUIS PID classification and diagnosis: Guidelines for clinicians at the bedside Por Bousfiha, A, Jeddane, L, Ailal, F, Al Herz, W, Conley, M, Cunningham-Rundles, C, Etzioni, A, Fischer, A, Franco, J, Geha, R, Hammarström, L, Nonoyama, S, Ochs, H, Roifman, C, Seger, R, Tang, M, Puck, J, Chapel, H, Notarangelo, L, Casanova, J
Publicado em 2013Journal article -
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DOCK8 deficiency impairs CD8 T cell survival and function in humans and mice. Por Randall, K, Chan, S, Ma, C, Fung, I, Mei, Y, Yabas, M, Tan, A, Arkwright, P, Al Suwairi, W, Lugo Reyes, S, Yamazaki-Nakashimada, M, Garcia-Cruz, M, Smart, J, Picard, C, Okada, S, Jouanguy, E, Casanova, J, Lambe, T, Cornall, R, Russell, S, Oliaro, J, Tangye, S, Bertram, E, Goodnow, C
Publicado em 2011Journal article -
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Inherited GINS1 deficiency underlies growth retardation along with neutropenia and NK cell deficiency Por Cottineau, J, Kottemann, M, Lach, F, Kang, Y, Vély, F, Deenick, E, Lazarov, T, Gineau, L, Wang, Y, Farina, A, Chansel, M, Lorenzo, L, Piperoglou, C, Ma, C, Nitschke, P, Belkadi, A, Itan, Y, Boisson, B, Jabot-Hanin, F, Picard, C, Bustamante, J, Eidenschenk, C, Boucherit, S, Aladjidi, N, Lacombe, D, Barat, P, Qasim, W, Hurst, J, Pollard, A, Uhlig, H, Fieschi, C, Michon, J, Bermudez, V, Abel, L, de Villartay, J, Geissmann, F, Tangye, S, Hurwitz, J, Vivier, E, Casanova, J, Smogorzewska, A, Jouanguy, E
Publicado em 2017Journal article -
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Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated RPSA exons Por 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
Publicado em 2018Journal article -
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An essential role for the Zn2+ transporter ZIP7 in B cell development Por Anzilotti, C, Swan, D, Boisson, B, Deobagkar-Lele, M, Oliveira, C, Chabosseau, P, Englehardt, K, Xu, X, Chen, R, Alvarez, L, Berlinguer-Palmini, R, Bull, K, Cawthorne, E, Cribbs, A, Crockford, T, Dang, T, Fearn, A, Fenech, E, de Jong, S, Lagerholm, B, Ma, C, Sims, D, van den Berg, B, Xu, Y, Cant, A, Kleiner, G, Leahy, T, de la Morena, M, Puck, J, Shapiro, R, van der Burg, M, Chapman, J, Christianson, J, Davies, B, McGrath, J, Przyborski, S, Santibanez Koref, M, Tangye, S, Werner, A, Rutter, G, Padilla-Parra, S, Casanova, J, Cornall, R, Conley, M, Hambleton, S
Publicado em 2019Journal article -
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Lack of association between classical HLA genes and asymptomatic SARS-CoV-2 infection Por Marchal, A, Cirulli, ET, Neveux, I, Bellos, E, Thwaites, RS, Schiabor Barrett, KM, Zhang, Y, Nemes-Bokun, I, Kalinova, M, Catchpole, A, Tangye, SG, Spaan, AN, Lack, JB, Ghosn, J, Burdet, C, Gorochov, G, Tubach, F, Hausfater, P, COVID Human Genetic Effort, COVIDeF Study Group, French COVID Cohort Study Group, CoV-Contact Cohort, COVID-STORM Clinicians, COVID Clinicians, Orchestra Working Group, Amsterdam UMC COVID-19 Biobank, NIAID-USUHS COVID Study Group, Dalgard, CL, Zhang, S-Y, Zhang, Q, Chiu, C, Fellay, J, Grzymski, JJ, Sancho-Shimizu, V, Abel, L, Casanova, J-L, Cobat, A, Bolze, A
Publicado em 2024Journal article