المؤلفون: Arias, Andrés A.^{Aff1, Aff2, Aff3}, Neehus, Anna-Lena^{Aff4, Aff5, IDs41586024078663_cor2}, Ogishi, Masato, Meynier, Vincent^{Aff4, Aff5}, Krebs, Adam^{Aff6, Aff7}, Lazarov, Tomi^{Aff6, Aff7}, Lee, Angela M.^{Aff7, Aff8}, Arango-Franco, Carlos A.^{Aff1, Aff4, Aff5}, Yang, Rui, Orrego, Julio, Corcini Berndt, Melissa^{Aff4, Aff5}, Rojas, Julian, Li, Hailun^{Aff4, Aff5}, Rinchai, Darawan, Erazo-Borrás, Lucia^{Aff1, Aff4, Aff5}, Han, Ji Eun, Pillay, Bethany^{Aff9, Aff10}, Ponsin, Khoren, Chaldebas, Matthieu^{Aff3, Aff5}, Philippot, Quentin^{Aff4, Aff5}, Bohlen, Jonathan^{Aff4, Aff5}, Rosain, Jérémie^{Aff4, Aff5, Aff11}, Le Voyer, Tom^{Aff4, Aff5, Aff12}, Janotte, Till^{Aff4, Aff5}, Amarajeeva, Krishnajina^{Aff4, Aff5}, Soudée, Camille^{Aff4, Aff5}, Brollo, Marion, Wiegmann, Katja, Marquant, Quentin, Seeleuthner, Yoann^{Aff4, Aff5}, Lee, Danyel^{Aff3, Aff4, Aff5}, Lainé, Candice^{Aff4, Aff5}, Kloos, Doreen^{Aff15, Aff16}, Bailey, Rasheed, Bastard, Paul^{Aff3, Aff4, Aff5, Aff17}, Keating, Narelle^{Aff3, Aff18, Aff19}, Rapaport, Franck, Khan, Taushif, Moncada-Vélez, Marcela^{Aff1, Aff3}, Carmona, María Camila, Obando, Catalina, Alvarez, Jesús, Cataño, Juan Carlos, Martínez-Rosado, Larry Luber, Sanchez, Juan P., Tejada-Giraldo, Manuela, L’Honneur, Anne-Sophie, Agudelo, María L., Perez-Zapata, Lizet J., Arboleda, Diana M., Alzate, Juan Fernando, Cabarcas, Felipe^{Aff24, Aff25}, Zuluaga, Alejandra, Pelham, Simon J., Ensser, Armin, Schmidt, Monika, Velásquez-Lopera, Margarita M.^{Aff28, Aff29}, Jouanguy, Emmanuelle^{Aff3, Aff4, Aff5}, Puel, Anne^{Aff3, Aff4, Aff5}, Krönke, Martin^{Aff14, Aff30}, Ghirardello, Stefano, Borghesi, Alessandro^{Aff31, Aff32}, Pahari, Susanta, Boisson, Bertrand^{Aff3, Aff4, Aff5}, Pittaluga, Stefania, Ma, Cindy S.^{Aff9, Aff10}, Emile, Jean-François, Notarangelo, Luigi D., Tangye, Stuart G.^{Aff9, Aff10}, Marr, Nico^{Aff37, Aff38}, Lachmann, Nico^{Aff15, Aff16, Aff39, Aff40}, Salvator, Hélène^{Aff12, Aff41, Aff42}, Schlesinger, Larry S., Zhang, Peng^{Aff3, Aff4, Aff5}, Glickman, Michael S.^{Aff6, Aff7}, Nathan, Carl F.^{Aff7, Aff8}, Geissmann, Frédéric^{Aff6, Aff7}, Abel, Laurent^{Aff3, Aff4, Aff5}, Franco, José Luis^{Aff1, IDs41586024078663_cor79}, Bustamante, Jacinta^{Aff3, Aff4, Aff5, Aff11}, Casanova, Jean-Laurent^{Aff3, Aff4, Aff5, Aff43, Aff44, IDs41586024078663_cor81}, Boisson-Dupuis, Stéphanie^{Aff3, Aff4, Aff5}

المصدر: Nature: International weekly journal of science. 633(8029):417-425

المؤلفون: Rapaport, Franck^{Aff1, Aff2}, Seier, Kenneth, Neelamraju, Yaseswini, Hassane, Duane, Baslan, Timour, Gildea, Daniel T., Haddox, Samuel, Lee, Tak, Murdock, H. Moses, Sheridan, Caroline, Thurmond, Alexis, Wang, Ling, Carroll, Martin, Cripe, Larry D., Fernandez, Hugo, Mason, Christopher E.^{Aff10, Aff11, Aff12}, Paietta, Elisabeth, Roboz, Gail J., Sun, Zhuoxin, Tallman, Martin S., Zhang, Yanming, Gönen, Mithat, Levine, Ross, Melnick, Ari M., Kleppe, Maria, Garrett-Bakelman, Francine E.^{Aff4, Aff5, Aff18, Aff19, IDs41408023008622_cor26}

المصدر: Blood Cancer Journal. 13(1)

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

المؤلفون: Smith, Catherine C, Viny, Aaron D, Massi, Evan, Kandoth, Cyriac, Socci, Nicholas D, Rapaport, Franck, Najm, Matthieu, Medina-Martinez, Juan S, Papaemmanuil, Elli, Tarver, Theodore C, Hsu, Henry H, Le, Mai H, West, Brian, Bollag, Gideon, Taylor, Barry S, Levine, Ross L, Shah, Neil P

المصدر: Clinical Cancer Research. 27(14)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Clinical Sciences, Oncology and Carcinogenesis, Pediatric Cancer, Hematology, Clinical Trials and Supportive Activities, Pediatric, Childhood Leukemia, Genetics, Rare Diseases, Cancer, Clinical Research, Development of treatments and therapeutic interventions, 5.1 Pharmaceuticals, Aminopyridines, Cell Line, Tumor, Cyclin D3, Drug Resistance, Neoplasm, Humans, Leukemia, Myeloid, Acute, Mutation, Protein Kinase Inhibitors, Pyrroles, fms-Like Tyrosine Kinase 3, Oncology & Carcinogenesis, Clinical sciences, Oncology and carcinogenesis

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/42r3q6x9
https://escholarship.org/content/qt42r3q6x9/qt42r3q6x9.pdf

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

المؤلفون: Le Voyer, Tom, Maglorius Renkilaraj, Majistor Raj Luxman, Kunihiko Moriya, Pérez Lorenzo, Malena, Nguyen, Tina, Liwei Gao, Rubin, Tamar, Cederholm, Axel, Masato Ogishi, Arango-Franco, Carlos A., Béziat, Vivien, Lévy, Romain, Migaud, Mélanie, Rapaport, Franck, Itan, Yuval, Deenick, Elissa K., Cortese, Irene, Lisco, Andrea, Boztug, Kaan, Abel, Laurent

المصدر: Proceedings of the National Academy of Sciences of the United States of America; 9/10/2024, Vol. 121 Issue 37, p1-12, 40p

مصطلحات موضوعية: IMMUNOLOGIC memory, HEMATOPOIETIC stem cell transplantation, EPITHELIAL cells, TYPE I interferons, IMMUNOGLOBULIN G

المؤلفون: Rapaport, Franck, Boisson, Bertrand, Gregor, Anne, Béziat, Vivien, Boisson-Dupuis, Stéphanie, Bustamante, Jacinta, Jouanguy, Emmanuelle, Puel, Anne, Rosain, Jérémie, Zhang, Qian, Zhang, Shen-Ying, Gleeson, Joseph G., Quintana-Murci, Lluis, Casanova, Jean-Laurent, Abel, Laurent, Patin, Etienne

المصدر: Proceedings of the National Academy of Sciences of the United States of America, 2021 Jan . 118(3), 1-9.

URL الوصول: https://www.jstor.org/stable/27012222

المؤلفون: Rapaport, Franck^{Aff1, Aff2}, Seier, Kenneth, Neelamraju, Yaseswini, Hassane, Duane, Baslan, Timour, Gildea, Daniel T., Haddox, Samuel, Lee, Tak, Murdock, H. Moses, Sheridan, Caroline, Thurmond, Alexis, Wang, Ling, Carroll, Martin, Cripe, Larry D., Fernandez, Hugo, Mason, Christopher E.^{Aff10, Aff11, Aff12}, Paietta, Elisabeth, Roboz, Gail J., Sun, Zhuoxin, Tallman, Martin S., Zhang, Yanming, Gönen, Mithat, Levine, Ross, Melnick, Ari M., Kleppe, Maria, Garrett-Bakelman, Francine E.^{Aff4, Aff5, Aff18, Aff19, IDs4140802200736z_cor26}

المصدر: Blood Cancer Journal. 12(9)

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المؤلفون: Rausell, Antonio, Luo, Yufei, Lopez, Marie, Seeleuthner, Yoann, Rapaport, Franck, Favier, Antoine, Stenson, Peter D., Cooper, David N., Patin, Etienne, Casanova, Jean-Laurent, Quintana-Murci, Lluis, Abel, Laurent

المصدر: Proceedings of the National Academy of Sciences of the United States of America, 2020 Jun . 117(24), 13626-13636.

URL الوصول: https://www.jstor.org/stable/26968513