المؤلفون: Hamid Nawaz Tipu, Wayne Bainter

المصدر: Pediatric Immunology ISBN: 9783030212612

مصطلحات موضوعية: Severe combined immunodeficiency, Recurrent respiratory tract infections, DCLRE1C, biology, business.industry, Immunology, Vdj recombination, biology.protein, Medicine, First year of life, Antibody, business, medicine.disease

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::a36431626b8cf7f5f20ac805d5dc54bdTest
https://doi.org/10.1007/978-3-030-21262-9_36Test

المؤلفون: Raif S. Geha, Wayne Bainter, Michael Seleman, Farah Naz Qamar, Janet Chou, Michel J. Massaad, Samina Junejo, Sonia Qureshi

المصدر: Clinical Immunology. 183:198-200

مصطلحات موضوعية: 0301 basic medicine, Severe combined immunodeficiency, 030102 biochemistry & molecular biology, medicine.medical_treatment, Immunology, Biology, medicine.disease, Virology, 03 medical and health sciences, 030104 developmental biology, Immune system, Cytokine, medicine, Immunology and Allergy, Missense mutation, Vertebral osteomyelitis, Receptor, Tyrosine kinase, Common gamma chain

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::88aec0de051809992dcc604d8c4d811cTest
https://doi.org/10.1016/j.clim.2017.09.007Test

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/

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

المؤلفون: Peter A. Nigrovic, Kelsey Stafstrom, Paul A. Brogan, Carla Irani, Pui Y. Lee, Christa Krupski, Janet Chou, Rasha El-Owaidy, Craig D. Platt, Sara Sebnem Kilic, Irit Tirosh, Eugene P. Chambers, Tali Stauber, Raif S. Geha, Raju Khubchandani, Zeina Baz, Z. Huang, M.R. Lokeshwar, Mohammed F. Alosaimi, Despina Eleftheriou, Wayne Bainter, Pallavi Pimpale, Michael B. Jordan, Ali Sobh, Erinn S. Kellner, Qing Zhou, Aaron R. Weiss, Somech Raz, Gérard Lefranc, Yuelong Huang, Elissa Furutani

المصدر: J Allergy Clin Immunol

مصطلحات موضوعية: Male, Vasculitis, Adenosine Deaminase 2 Deficiency, Genotype, Adenosine Deaminase, Immunology, Hepatosplenomegaly, Pure red cell aplasia, Red-Cell Aplasia, Pure, Article, medicine, Humans, Immunology and Allergy, Missense mutation, Child, business.industry, Bone marrow failure, Infant, Bone Marrow Failure Disorders, medicine.disease, Phenotype, Hematologic disease, Child, Preschool, Mutation, Intercellular Signaling Peptides and Proteins, Female, medicine.symptom, business, Metabolism, Inborn Errors

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e8081d2779c10ab62d9333a1daf07253Test
https://doi.org/10.1016/j.jaci.2019.12.908Test

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/

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

المؤلفون: Rajaa Al-Attiyah, Joyce T. Hsu, Janet Chou, Waleed Al-Herz, Raif S. Geha, Wayne Bainter

المصدر: Clinical Immunology. 161:128-130

مصطلحات موضوعية: Autoimmune disease, Pathology, medicine.medical_specialty, Mutation, business.industry, Immunology, Late onset, medicine.disease, medicine.disease_cause, Chronic granulomatous disease, Duodenitis, immune system diseases, Immunology and Allergy, Medicine, In patient, business, Novel mutation, Exome sequencing

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::f9d096dbaf73910fcc5718d9d28100dcTest
https://doi.org/10.1016/j.clim.2015.08.003Test

المؤلفون: Rahsan Gocmen, Talal A. Chatila, Betul Karaatmaca, Deniz Cagdas Ayvaz, Janet Chou, Ilhan Tezcan, Pınar Gur Cetinkaya, Figen Söylemezoğlu, Wayne Bainter

المصدر: Clinical immunology (Orlando, Fla.). 191

مصطلحات موضوعية: 0301 basic medicine, Adolescent, Immunology, Nonsense mutation, 03 medical and health sciences, Central Nervous System Fungal Infections, medicine, Immunology and Allergy, Humans, Receptor, Caspase, Innate immune system, biology, Pattern recognition receptor, Intracellular Signaling Peptides and Proteins, Signal transducing adaptor protein, medicine.disease, CARD Signaling Adaptor Proteins, 030104 developmental biology, Mycoses, Codon, Nonsense, Mutation (genetic algorithm), Primary immunodeficiency, biology.protein, Female

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6a418edea860e0099c7aeba3b0d50367Test
https://pubmed.ncbi.nlm.nih.gov/29307770Test

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