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المؤلفون: Raif S. Geha, Stefano Maio, Wayne Bainter, Jeff Goldsmith, Erin Janssen, Silvia Parolini, Janet Chou, Yousef R. Badran, Manuela Baronio, Christy Kam, Hazel Wilkie, Paolo Incardona, Abdallah Beano, Georg A. Holländer, Vassilios Lougaris, Mrinmoy Das, Rodrigo Hoyos-Bachiloglu, Birgitta Schmidt, Phammela Abarzua, Alessandro Plebani, Maria Pia Bondioni, Zachary Peters, Giovanna Tabellini, Jacqueline G. Wallace, Antonella Meini, Luisa Bercich, Vincenzo Villanacci, George F. Murphy, Khaoula Ben Farhat
المصدر: Sci Immunol
مصطلحات موضوعية: genetic structures, Immunology, Mutation, Missense, Alpha (ethology), Autoimmunity, Mice, Transgenic, medicine.disease_cause, Complement factor B, Nuclear factor kappa b, Article, Mice, parasitic diseases, medicine, Missense mutation, Animals, Humans, Immunodeficiency, Kinase, Chemistry, General Medicine, medicine.disease, I-kappa B Kinase, Mice, Inbred C57BL, HEK293 Cells, Cancer research, Phosphorylation
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e44723c58581bfe1ab739559710838beTest
https://pubmed.ncbi.nlm.nih.gov/34533979Test -
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المؤلفون: Nima Rezaei, Raif S. Geha, Hassan Abolhassani, Capucine Picard, Asghar Aghamohammadi, Iraj Mohammadzadeh, Lennart Hammarström, Alireza Ghajar, Najmeddin Kalantari, Wayne Bainter, Mahmood Tavassoli, Farahzad Jabbari-Azad, Reza Amin, Delara Babaie, Habib Soheili, Mohammad Hossein Eslamian, Mehrnaz Mesdaghi, Janet Chou, Nima Parvaneh, Sevgi Keles, Arash Havaei, Craig D. Platt, Taher Cheraghi, Mohammamd Nabavi, Masoud Movahedi, Talal A. Chatila, Mohammad Taghi Joghataei, Michel J. Massaad, Mohsen Afarideh, Javad Mohammadi, Mohammad Hassan Bemanian, Zahra Chavoshzadeh, Hamid Ahanchian, Soheila Aleyasin, Alireza Shafiei, Mohammad Gharagozlou, Seyed Hamidreza Mortazavi, Babak Negahdari, Basel K. al-Ramadi, Amir Ali Hamidieh, Javad Tafaroji, Mahboubeh Mansouri, Seyed Alireza Mahdaviani, Saba Arshi, Rasol Molatefi, Reza Faridhosseini, Tooba Momen, Mohsen Ghadami, Rasoul Nasiri Kalmarzi, Maryam Khoshkhui, Marzieh Tavakol, Roya Sherkat, Afshin Shirkani, Nasrin Behniafard, Abbas Dabbaghzadeh, Reza Yazdani, Gholamreza Azizi, Abbas Khalili, Javad Ghaffari
المصدر: Journal of Allergy and Clinical Immunology. 141:1450-1458
مصطلحات موضوعية: Male, STAT3 Transcription Factor, 0301 basic medicine, medicine.medical_specialty, Adolescent, Immunology, Genes, Recessive, Disease, Consanguinity, Iran, Biology, 03 medical and health sciences, Combined immunodeficiencies, Internal medicine, medicine, Humans, Immunology and Allergy, Genetic Predisposition to Disease, Child, Survival rate, Immunodeficiency, Exome sequencing, Retrospective Studies, Immunologic Deficiency Syndromes, High-Throughput Nucleotide Sequencing, Infant, Sequence Analysis, DNA, medicine.disease, Survival Rate, Phenotype, 030104 developmental biology, Child, Preschool, Mutation, Ataxia-telangiectasia, Primary immunodeficiency, Female, Job Syndrome
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::715b8af525ae077852802067ee57b227Test
https://doi.org/10.1016/j.jaci.2017.06.049Test -
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المؤلفون: Lewis C. Cantley, Raif S. Geha, Wayne Bainter, Jennifer Jones, Farah Naz Qamar, Janet Chou, Jacqueline G. Wallace, Jared L. Johnson, Jenny C.Y. Wong, Sonia Qureshi, Ting-Yu Lin, Sarah Beaussant Cohen, Fatima Mir
مصطلحات موضوعية: Immunology, Mutant, Biology, medicine.disease, Acquired immune system, Article, Cell biology, P110δ, Primary immunodeficiency, medicine, Immunology and Allergy, A kinase, Signal transduction, Function (biology), Immunodeficiency
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::329df91d56f611cefcd74962fcb9f5b5Test
https://europepmc.org/articles/PMC6387453Test/ -
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المؤلفون: Anant Vatsayan, Fedik Rahimov, Waleed Al-Herz, Colin A. Sieff, Mark D. Fleming, Basel K. al-Ramadi, E. Graham Davies, Michel J. Massaad, Martha Sola-Visner, Raif S. Geha, Narayanaswamy Ramesh, Haifa H. Jabara, Nancy C. Andrews, Wayne Bainter, Eli Silver, David Fraulino, Steven E. Boyden, Rand Arnaout, Salem H. Alshemmari, Sanjay P Ahuja, Louis M. Kunkel, Hasan Al-Dhekri, Mohammad Abu-Shukair, Zhi-Jian Liu, Janet Chou, Toshiro K. Ohsumi, Halli Benson, Luigi D. Notarangelo
المصدر: Nature Genetics. 48:74-78
مصطلحات موضوعية: Male, 0301 basic medicine, medicine.medical_specialty, Lymphocyte, media_common.quotation_subject, Mutation, Missense, Cell Cycle Proteins, Transferrin receptor, Adaptive Immunity, Biology, Endocytosis, 03 medical and health sciences, Antigens, CD, Internal medicine, Receptors, Transferrin, Genetics, medicine, Animals, Humans, Missense mutation, Receptor, Internalization, Cells, Cultured, Immunodeficiency, media_common, Oncogene Proteins, chemistry.chemical_classification, B-Lymphocytes, Immunologic Deficiency Syndromes, Anemia, Fibroblasts, medicine.disease, Molecular biology, Mice, Mutant Strains, Pedigree, 3. Good health, Mice, Inbred C57BL, 030104 developmental biology, Endocrinology, medicine.anatomical_structure, chemistry, Transferrin, Female, Oxidoreductases
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::554a57ef01a1e625821aeae18c7a69a3Test
https://doi.org/10.1038/ng.3465Test -
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المؤلفون: Catherine Sodroski, Rodrigo Hoyos-Bachiloglu, Abdallah Beano, Fahd Almanjomi, Magdalena Angelova, Mohamed Al Shehri, Raif S. Geha, Janet Chou, Murad K. Habazi, Eman Al Idrissi, Wayne Bainter, Morsi Alaa Eldin, Mofareh AlZahrani, Hamza Ali Alghamdi, Nagi Elsidig, David M. Knipe
مصطلحات موضوعية: 0301 basic medicine, Male, Cytomegalovirus, Mycobacterium Infections, Nontuberculous, Bacteremia, Receptor, Interferon alpha-beta, medicine.disease_cause, Frameshift mutation, 03 medical and health sciences, Mutant protein, Streptococcal Infections, medicine, Humans, STAT1, Viremia, STAT2, Phosphorylation, Gene, Immunodeficiency, Receptors, Interferon, Mutation, biology, Mycobacterium abscessus, Concise Communication, Genetic Diseases, Inborn, Immunologic Deficiency Syndromes, STAT2 Transcription Factor, General Medicine, Fibroblasts, medicine.disease, Viridans Streptococci, Molecular biology, Stop codon, 030104 developmental biology, STAT1 Transcription Factor, Cytomegalovirus Infections, biology.protein, Female
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02af3471a45965ea485c5fd6e7cc1c48Test
https://europepmc.org/articles/PMC5707159Test/ -
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المؤلفون: Hashim Javad, Brittney Cangemi, Michel J. Massaad, Shafiq Ur Rehman Naseem, Raif S. Geha, Wayne Bainter, Salem Al-Tamemi, Janet Chou, Yousef R. Badran
المصدر: Clinical Immunology. :100-102
مصطلحات موضوعية: 0301 basic medicine, Severe combined immunodeficiency, ORAI1, Protein subunit, Endoplasmic reticulum, Calcium channel, Immunology, chemistry.chemical_element, STIM1, Biology, Calcium, medicine.disease, Cell biology, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, chemistry, medicine, Cancer research, Immunology and Allergy, 030217 neurology & neurosurgery, Immunodeficiency
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::21129213d3eccb00b306b9ef64c800edTest
https://doi.org/10.1016/j.clim.2016.03.012Test -
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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 -
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المؤلفون: Yousef R. Badran, Janet Chou, Sung-Yun Pai, Toshiro K. Ohsumi, Raif S. Geha, Wayne Bainter, Suleiman Al-Hammadi, Christina S.K. Yee, Stefan Feske
مصطلحات موضوعية: ORAI1, business.industry, T cell, Immunology, Residual, medicine.disease, Article, Text mining, medicine.anatomical_structure, Cancer research, medicine, Immunology and Allergy, business, Novel mutation, Function (biology), Immunodeficiency
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd98adb7849ed76f09c76072da9eae21Test
https://europepmc.org/articles/PMC4530045Test/ -
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المؤلفون: Nurten A. Akarsu, Ilhan Tezcan, Raif S. Geha, Wayne Bainter, Michel J. Massaad, Niko Föger, Caner Aytekin, Andrew C. Chan, Christina S.K. Yee, Toshiro K. Ohsumi, Deniz Cagdas Ayvaz, Janet Chou, Ozden Sanal
المصدر: Journal of Allergy and Clinical Immunology. 137:879-888.e2
مصطلحات موضوعية: CD4-Positive T-Lymphocytes, Male, 0301 basic medicine, Adolescent, Cell Survival, DNA Mutational Analysis, Immunology, Immunoglobulins, Lymphocyte proliferation, Biology, medicine.disease_cause, Skin Diseases, Filamentous actin, Cell Degranulation, Article, Frameshift mutation, Mice, 03 medical and health sciences, T-Lymphocyte Subsets, Lymphopenia, medicine, Animals, Humans, Immunology and Allergy, Lymphocyte Count, Frameshift Mutation, Cytoskeleton, Immunodeficiency, Severe combined immunodeficiency, Mutation, Siblings, Homozygote, Microfilament Proteins, medicine.disease, Actins, Pedigree, Protein Transport, Phenotype, 030104 developmental biology, Virus Diseases, biology.protein, Primary immunodeficiency, Female, Protein Multimerization, Warts, Antibody, Signal Transduction
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::753f871d2d27725e1b12faceda1ceefcTest
https://doi.org/10.1016/j.jaci.2015.08.020Test