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1دورية أكاديمية
المؤلفون: Waleed Al-Herz, Janet Chou, Ottavia Maria Delmonte, Michel J. Massaad, Wayne Bainter, Riccardo Castagnoli, Christoph Klein, Yenan T. Bryceson, Raif S. Geha, Luigi D. Notarangelo
المصدر: Frontiers in Immunology, Vol 9 (2019)
مصطلحات موضوعية: primary immunodeficiencies, genetic, consanguinity, autosomal recessive, mutation, Immunologic diseases. Allergy, RC581-607
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/article/10.3389/fimmu.2018.03146/fullTest; https://doaj.org/toc/1664-3224Test
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المؤلفون: Victor W. Hsu, Seung-Yeol Park, Tobias C. Walther, Raif S. Geha, Maria Tsokos, Sarah Beaussant-Cohen, Seth Rakoff-Nahoum, Wayne Bainter, Shafiq Ur Rehman Naseem, Craig D. Platt, Janet Chou, Zachary Peters, Michel J. Massaad, Jennifer Jones, Chitong Rao, Michel Becuwe, Jordan S. Orange, Faris Jaber, Salem Al-Tamemi, Sandra Andrea Salinas, Jacqueline G. Wallace, Jia-Shu Yang, Kelsey Stafstrom
المصدر: J Clin Invest
مصطلحات موضوعية: 0301 basic medicine, Cellular immunity, Receptors, Peptide, T-Lymphocytes, KDEL, Mutation, Missense, Golgi Apparatus, Apoptosis, Gene mutation, Endoplasmic Reticulum, Lymphocyte Activation, Coatomer Protein, Mice, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, Animals, Humans, Defective T cell proliferation, B-Lymphocytes, Chemistry, Endoplasmic reticulum, General Medicine, COPI, Golgi apparatus, Endoplasmic Reticulum Stress, Mice, Mutant Strains, Cell biology, 030104 developmental biology, Amino Acid Substitution, 030220 oncology & carcinogenesis, Unfolded protein response, symbols, Severe Combined Immunodeficiency, Research Article
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::299891811f4bf8261095c8b0e62c65adTest
https://doi.org/10.1172/jci140494Test -
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المؤلفون: Raif S. Geha, Juan Manuel Leyva Castillo, Janet Chou, Fatma Dedeoglu, Jeff Goldsmith, Wayne Bainter, Yousef R. Badran, Athos Bousvaros, Toshiro K. Ohsumi
المصدر: The Journal of Experimental Medicine
مصطلحات موضوعية: 0301 basic medicine, Proband, Male, Programmed cell death, Stromal cell, Immunology, Haploinsufficiency, Caspase 8, 03 medical and health sciences, 0302 clinical medicine, Skin Ulcer, Immunology and Allergy, Medicine, Animals, Humans, Exome, Colitis, Oral Ulcer, Research Articles, Cells, Cultured, Genes, Dominant, Mice, Knockout, Base Sequence, business.industry, Tumor Necrosis Factor-alpha, Gene Expression Profiling, Dextran Sulfate, Brief Definitive Report, NF-kappa B, Transcription Factor RelA, Sequence Analysis, DNA, Fibroblasts, medicine.disease, 3. Good health, Pedigree, 030104 developmental biology, Apoptosis, Chronic Disease, Cancer research, Tumor necrosis factor alpha, Female, business, 030215 immunology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d84a9f625fb5a3d2085db5660f71633Test
http://europepmc.org/articles/PMC5502421Test -
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المؤلفون: Şerife Gül Karadağ, Janet Chou, Nuray Aktay-Ayaz, Eda Tahir-Turanlı, Kelsey Stafstrom, Raif S. Geha, Wayne Bainter, Mustafa Çakan
المصدر: The Turkish Journal of Pediatrics. 61:413
مصطلحات موضوعية: Gastrointestinal bleeding, business.industry, Disease, Amaurosis fugax, medicine.disease, Phenotype, Etanercept, 03 medical and health sciences, 0302 clinical medicine, 030225 pediatrics, Pediatrics, Perinatology and Child Health, Immunology, Medicine, medicine.symptom, business, Vasculitis, Stroke, 030217 neurology & neurosurgery, Immunodeficiency, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::3fa8744dabbd23055faf400be17a9512Test
https://doi.org/10.24953/turkjped.2019.03.014Test