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1دورية أكاديمية
المؤلفون: Asano, Takaki, Khourieh, Joëlle, Zhang, Peng, Rapaport, Franck, Spaan, András N, Li, Juan, Lei, Wei-Te, Pelham, Simon J, Hum, David, Chrabieh, Maya, Han, Ji Eun, Guérin, Antoine, Mackie, Joseph, Gupta, Sudhir, Saikia, Biman, Baghdadi, Jamila EI, Fadil, Ilham, Bousfiha, Aziz, Habib, Tanwir, Marr, Nico, Ganeshanandan, Luckshman, Peake, Jane, Droney, Luke, Williams, Andrew, Celmeli, Fatih, Hatipoglu, Nevin, Ozcelik, Tayfun, Picard, Capucine, Abel, Laurent, Tangye, Stuart G, Boisson-Dupuis, Stéphanie, Zhang, Qian, Puel, Anne, Béziat, Vivien, Casanova, Jean-Laurent, Boisson, Bertrand
المصدر: Journal of Experimental Medicine. 218(8)
مصطلحات موضوعية: Rare Diseases, Genetics, Biotechnology, Aetiology, 2.1 Biological and endogenous factors, Adolescent, Adult, Alleles, Alternative Splicing, Child, Child, Preschool, Codon, Nonsense, Evolution, Molecular, Family, Female, Frameshift Mutation, Genes, Dominant, Genetics, Population, HEK293 Cells, Humans, Infant, Infant, Newborn, Job Syndrome, Male, Middle Aged, Mutation, Pedigree, Protein Biosynthesis, RNA, Messenger, STAT3 Transcription Factor, Medical and Health Sciences, Immunology
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/9844326w
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2دورية أكاديمية
المؤلفون: Le Voyer, Tom, Neehus, Anna-Lena, Yang, Rui, Ogishi, Masato, Rosain, Jérémie, Alroqi, Fayhan, Alshalan, Maha, Blumental, Sophie, Ali, Fatima Al, Khan, Taushif, Ata, Manar, Rozen, Laurence, Demulder, Anne, Bastard, Paul, Gruber, Conor, Roynard, Manon, Seeleuthener, Yoann, Rapaport, Franck, Bigio, Benedetta, Chrabieh, Maya, Sng, Danielle, Berteloot, Laureline, Boddaert, Nathalie, Rozenberg, Flore, Al-Muhsen, Saleh, Bertoli-Avella, Aida, Abel, Laurent, Bogunovic, Dusan, Marr, Nico, Mansouri, Davood, Mutairi, Fuad Al, Béziat, Vivien, Weil, Dominique, Mahdaviani, Seyed Alireza, Ferster, Alina, Zhang, Shen-Ying, Reversade, Bruno, Boisson-Dupuis, Stéphanie, Casanova, Jean-Laurent, Bustamante, Jacinta
المصدر: Proceedings of the National Academy of Sciences of the United States of America, 2021 Apr . 118(15), 1-12.
URL الوصول: https://www.jstor.org/stable/27040132
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3دورية أكاديمية
المؤلفون: Ogishi, MasatoAff1, Aff2, IDs41591021013885_cor1, Yang, Rui, Aytekin, Caner, Langlais, David, Bourgey, Mathieu, Khan, Taushif, Ali, Fatima Al, Rahman, Mahbuba, Delmonte, Ottavia M., Chrabieh, MayaAff8, Aff9, Zhang, Peng, Gruber, ConorAff10, Aff11, Aff12, Aff13, Pelham, Simon J., Spaan, András N., Rosain, JérémieAff8, Aff9, Lei, Wei-Te, Drutman, Scott, Hellmann, Matthew D.Aff14, Aff15, Callahan, Margaret K.Aff14, Aff15, Adamow, MatthewAff16, Aff17, Wong, Phillip, Wolchok, Jedd D.Aff14, Aff15, Aff17, Aff18, Rao, Geetha, Ma, Cindy S.Aff19, Aff20, Nakajima, Yuka, Yaguchi, Tomonori, Chamoto, Kenji, Williams, Samuel C.Aff22, Aff23, Emile, Jean-Francois, Rozenberg, Flore, Glickman, Michael S., Rapaport, Franck, Kerner, GaspardAff8, Aff9, Allington, GarrettAff27, Aff28, Aff29, Tezcan, Ilhan, Cagdas, Deniz, Hosnut, Ferda O., Dogu, Figen, Ikinciogullari, Aydan, Rao, V. Koneti, Kainulainen, Leena, Béziat, VivienAff1, Aff8, Aff9, Bustamante, JacintaAff1, Aff8, Aff9, Aff35, Vilarinho, SilviaAff27, Aff28, Aff29, Lifton, Richard P.Aff27, Aff36, Boisson, BertrandAff1, Aff8, Aff9, Abel, LaurentAff1, Aff8, Aff9, Bogunovic, DusanAff10, Aff11, Aff12, Aff13, Marr, NicoAff6, Aff37, Notarangelo, Luigi D., Tangye, Stuart G.Aff19, Aff20, Honjo, Tasuku, Gros, PhilippeAff38, Aff39, Boisson-Dupuis, StéphanieAff1, Aff8, Aff9, IDs41591021013885_cor54, Casanova, Jean-LaurentAff1, Aff8, Aff9, Aff40, IDs41591021013885_cor55
المصدر: Nature Medicine. 27(9):1646-1654
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4دورية أكاديمية
المؤلفون: Khourieh, Joëlle, Rao, Geetha, Habib, Tanwir, Avery, Danielle T., Lefèvre-Utile, Alain, Chandesris, Marie-Olivia, Belkadi, Aziz, Chrabieh, Maya, Alwaseem, Hanan, Grandin, Virginie, Sarrot-Reynauld, Françoise, Sénéchal, Agathe, Lortholary, Olivier, Kong, Xiao-Fei, Boisson-Dupuis, Stéphanie, Picard, Capucine, Puel, Anne, Béziat, Vivien, Zhang, Qian, Abel, Laurent, Molina, Henrik, Marr, Nico, Tangye, Stuart G., Casanova, Jean-Laurent, Boisson, Bertrand
المصدر: Proceedings of the National Academy of Sciences of the United States of America, 2019 Aug . 116(33), 16463-16472.
URL الوصول: https://www.jstor.org/stable/26850439
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5دورية أكاديمية
المؤلفون: Manry, JeremyAff1, Aff2, Vincent, Quentin B.Aff1, Aff2, Johnson, ChristianAff3, Aff4, Chrabieh, MayaAff1, Aff2, Lorenzo, LazaroAff1, Aff2, Theodorou, Ioannis, Ardant, Marie-FrançoiseAff3, Aff6, Marion, Estelle, Chauty, AnnickAff3, Aff6, Marsollier, Laurent, Abel, LaurentAff1, Aff2, Aff8, Alcaïs, AlexandreAff1, Aff2
المصدر: Communications Biology. 3(1)
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6دورية أكاديمية
المؤلفون: Mina, Erika Della, Borghesi, Alessandro, Zhou, Hao, Bougarn, Salim, Boughorbel, Sabri, Israel, Laura, Meloni, Ilaria, Chrabieh, Maya, Ling, Yun, Itan, Yuval, Renieri, Alessandra, Mazzucchelli, Iolanda, Basso, Sabrina, Pavone, Piero, Falsaperla, Raffaele, Ciccone, Roberto, Cerbo, Rosa Maria, Stronati, Mauro, Picard, Capucine, Zuffardi, Orsetta, Abel, Laurent, Chaussabel, Damien, Marr, Nico, Li, Xiaoxia, Casanova, Jean-Laurent, Puel, Anne
المصدر: Proceedings of the National Academy of Sciences of the United States of America, 2017 Jan . 114(4), E514-E523.
URL الوصول: https://www.jstor.org/stable/26479065
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7دورية أكاديمية
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8دورية أكاديمية
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9دورية أكاديمية
المؤلفون: Gaschignard, Jean, Levy, Corinne, Chrabieh, Maya, Boisson, Bertrand, Bost-Bru, Cécile, Dauger, Stéphane, Dubos, François, Durand, Philippe, Gaudelus, Joël, Gendrel, Dominique, Le Guen, Christèle Gras, Grimprel, Emmanuel, Guyon, Gaël, Jeudy, Catherine, Jeziorski, Eric, Leclerc, Francis, Léger, Pierre-Louis, Lesage, Fabrice, Lorrot, Mathie, Pellier, Isabelle, Pinquier, Didier, de Pontual, Loïc, Sachs, Philippe, Thomas, Caroline, Tissières, Pierre, Valla, Frédéric V., Desprez, Philippe, Frémeaux-Bacchi, Véronique, Varon, Emmanuelle, Bossuyt, Xavier, Cohen, Robert, Abel, Laurent, Casanova, Jean-Laurent, Puel, Anne, Picard, Capucine
المصدر: Clinical Infectious Diseases, 2014 Jul . 59(2), 244-251.
URL الوصول: http://dx.doi.org/10.1093/cid/ciu274
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10دورية أكاديمية
لا يتم عرض هذه النتيجة على الضيوف.
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