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1دورية أكاديمية
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2دورية أكاديمية
المؤلفون: Buyun Shi, Ming Chen, Zhi Xia, Shuna Xiao, Wen Tang, Chenguang Qin, Ying Cheng, Tao Huang, Chengjiao Huang, Yong Li, Hui Xu
المصدر: BMC Infectious Diseases, Vol 20, Iss 1, Pp 1-5 (2020)
مصطلحات موضوعية: X-SCID, IL2RG, Hemophagocytic syndrome, Mycobacterium bovis, Infectious and parasitic diseases, RC109-216
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Tomonori Nochi, Shunichi Suzuki, Shun Ito, Shotaro Morita, Mutsumi Furukawa, Daiichiro Fuchimoto, Yoji Sasahara, Katsuki Usami, Kanae Niimi, Osamu Itano, Minoru Kitago, Sachiko Matsuda, Ayumi Matsuo, Yoshihisa Suyama, Yoshifumi Sakai, Guoyao Wu, Fuller W. Bazer, Kouichi Watanabe, Akira Onishi, Hisashi Aso
المصدر: Cellular and Molecular Gastroenterology and Hepatology, Vol 10, Iss 1, Pp 83-100 (2020)
مصطلحات موضوعية: Peyer’s Patches, IgA, Microflora, X-SCID, BMT, Diseases of the digestive system. Gastroenterology, RC799-869
وصف الملف: electronic resource
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4دورية أكاديمية
المؤلفون: Hsu, Amy P, Pittaluga, Stefania, Martinez, Bianca, Rump, Amy P, Raffeld, Mark, Uzel, Gulbu, Puck, Jennifer M, Freeman, Alexandra F, Holland, Steven M
المصدر: Journal of Clinical Immunology. 35(5)
مصطلحات موضوعية: Biomedical and Clinical Sciences, Immunology, Genetics, Pediatric, 2.1 Biological and endogenous factors, Aetiology, Inflammatory and immune system, Adult, Antigens, CD19, B-Lymphocytes, Bronchiectasis, CD4-Positive T-Lymphocytes, CD8-Positive T-Lymphocytes, Delayed Diagnosis, Humans, Infant, Newborn, Infections, Interleukin Receptor Common gamma Subunit, Lymphoid Progenitor Cells, Male, Mutation, Pedigree, Phenotype, Severe Combined Immunodeficiency, Signal Transduction, Skin, Young Adult, X-SCID, IL2RG, Reversion, Common gamma chain
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/1d49h5hs
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5دورية أكاديمية
المؤلفون: Jolanda Steininger, Alexander Leiss-Piller, Christoph B. Geier, Raphael Rossmanith, Reem Elfeky, David Bra, Herbert Pichler, Anita Lawitschka, Natascha Zubarovskaya, Gottfried Artacker, Susanne Matthes-Leodolter, Martha M. Eibl, Hermann M. Wolf
المصدر: Frontiers in Immunology, Vol 12 (2021)
مصطلحات موضوعية: severe combined immunodeficiency, X-SCID, IL2RG, somatic mosaicism, early engraftment, second-site mutation, Immunologic diseases. Allergy, RC581-607
وصف الملف: electronic resource
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6دورية أكاديميةSomatic Reversion of a Novel IL2RG Mutation Resulting in Atypical X-Linked Combined Immunodeficiency
المؤلفون: Yujuan Hou, Hans Peter Gratz, Guillermo Ureña-Bailén, Paul G. Gratz, Karin Schilbach-Stückle, Tina Renno, Derya Güngör, Daniel A. Mader, Elke Malenke, Justin S. Antony, Rupert Handgretinger, Markus Mezger
المصدر: Genes, Vol 13, Iss 1, p 35 (2021)
مصطلحات موضوعية: atypical X-SCID, immunodeficiency, IL-2RG, γC, somatic reversion, hypomorphic mutation, Genetics, QH426-470
وصف الملف: electronic resource
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7دورية أكاديمية
المؤلفون: Shi, Buyun, Chen, Ming, Xia, Zhi, Xiao, Shuna, Tang, Wen, Qin, Chenguang, Cheng, Ying, Huang, Tao, Huang, Chengjiao, Li, Yong, Xu, HuiAff1
المصدر: BMC Infectious Diseases. 20(1)
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8دورية أكاديمية
المؤلفون: Stepensky, PolinaAff1, IDs108750180514y_cor1, Keller, Baerbel, Shamriz, Oded, von Spee-Mayer, Caroline, Friedmann, David, Shadur, BellaAff1, Aff4, Aff5, Unger, Susanne, Fuchs, Sebastian, NaserEddin, Adeeb, Rumman, Nisreen, Amro, Sara, Molho Pessach, Vered, Abuzaitoun, Omar, Somech, Raz, Elpeleg, Orly, Ehl, Stephan, Warnatz, Klaus
المصدر: Journal of Clinical Immunology: International Journal of Inborn Errors of Immunity and Related Diseases. 38(4):527-536
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المؤلفون: Takeshi Tada, Hiroe Ohnishi, Norio Yamamoto, Fumihiko Kuwata, Yasuyuki Hayashi, Hideaki Okuyama, Tsunetaro Morino, Yoshiyuki Kasai, Hiromi Kojima, Koichi Omori
المصدر: Regenerative Therapy
Regenerative Therapy, Vol 19, Iss, Pp 77-87 (2022)مصطلحات موضوعية: Medicine (General), ET, Eustachian tube, CPM, carboxypeptidase M, Middle ear, PBS, phosphate-buffered saline, Biomedical Engineering, KRT5, cytokeratin5, NBRP, National BioResource Project, Ac-TUB, acetylated α-tubulin, Biomaterials, R5-920, X-SCID, x-linked severe combined immunodeficient, hiPSC, human induced pluripotent stem cell, OCT, optimal cutting temperature, PET, polyethylene terephthalate, Cholesteatoma, AEC, airway epithelial cell, Otitis media, Transplantation, QH573-671, EDTA, ethylenediaminetetraacetic acid, HNA, human nuclear antigen, Induced pluripotent stem cell, respiratory system, MUC5AC, mucin5AC, Original Article, PFA, paraformaldehyde, Cytology, DAPI, 4′,6-diamidino-2-phenylindole, Developmental Biology
وصف الملف: application/pdf
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10Somatic Reversion of a Novel IL2RG Mutation Resulting in Atypical X-Linked Combined Immunodeficiency
المؤلفون: Yujuan Hou, Hans Peter Gratz, Guillermo Ureña-Bailén, Paul G. Gratz, Karin Schilbach-Stückle, Tina Renno, Derya Güngör, Daniel A. Mader, Elke Malenke, Justin S. Antony, Rupert Handgretinger, Markus Mezger
المصدر: Genes, Vol 13, Iss 35, p 35 (2022)
مصطلحات موضوعية: atypical X-SCID, Genetics, hypomorphic mutation, somatic reversion, IL-2RG, QH426-470, immunodeficiency, γC