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1Academic Journal
المساهمون: Soon Sung Kwon, Youn Keong Cho, Seungmin Hahn, Jiyoung Oh, Dongju Won, Saeam Shin, Ji-Man Kang, Jong Gyun Ahn, Seung-Tae Lee, Jong Rak Choi, Kang, Ji-Man
مصطلحات موضوعية: Asian People, Exome Sequencing, Humans, Immune System Diseases* / genetics, clinical exome sequencing, genetic diagnosis, inborn errors of immunity, incidental finding, next generation sequencing, somatic variant
وصف الملف: application/pdf
Relation: FRONTIERS IN IMMUNOLOGY; J03075; OAK-2023-01763; OAK-2023-01764; OAK-2023-01765; OAK-2023-01766; OAK-2023-01767; OAK-2023-01768; OAK-2023-01769; OAK-2023-01770; https://ir.ymlib.yonsei.ac.kr/handle/22282913/195436; T202303245; FRONTIERS IN IMMUNOLOGY, Vol.14 : 1178582, 2023-05
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2Academic Journal
المؤلفون: Sogkas, Georgios, Atschekzei, Faranaz, Adriawan, Ignatius Ryan, Dubrowinskaja, Natalia, Witte, Torsten, Schmidt, Reinhold Ernst
المصدر: http://lobid.org/resources/99370675071606441#!, 18(5):1122-1140.
مصطلحات موضوعية: Genetic Predisposition to Disease [MeSH], Receptors, Antigen, T-Cell/metabolism [MeSH], Immune System Diseases/genetics [MeSH], Humans [MeSH], Review Article, T-Lymphocytes, Regulatory/immunology [MeSH], Immune Tolerance/genetics [MeSH], Immune System Diseases/pathology [MeSH], Autoimmunity, Autoimmunity/genetics [MeSH], Inborn errors of immunity, Rheumatic diseases, Primary immunodeficiencies
Relation: https://repository.publisso.de/resource/frl:6442832; https://doi.org/10.1038/s41423-020-00626-z; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8015752/
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3Academic Journal
المؤلفون: Bianchi, Elisabetta, Rogge, Lars
المساهمون: Immunorégulation - Immunoregulation, Institut Pasteur Paris (IP), AP-HP - Hôpital Cochin Broca Hôtel Dieu Paris, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Work in the authors’ laboratory was supported by grants from Institut Pasteur, FOREUM Foundation for Research in Rheu- matology, the Fondation Arthritis and MSD Avenir (Project iCARE- SpA)., The authors thank Sandra Pellegrini and Zhi Li for helpful discussions.
المصدر: ISSN: 1466-4879.
مصطلحات موضوعية: Animals, Anti-Inflammatory Agents / therapeutic use, Antibodies, Monoclonal / therapeutic use, Genetic Predisposition to Disease, Humans, Immune System Diseases / drug therapy, Immune System Diseases / genetics, Immune System Diseases / immunology, Interleukin-17 / genetics, Interleukin-17 / immunology, Interleukin-23 / genetics, Interleukin-23 / immunology, [SDV]Life Sciences [q-bio], [SDV.IMM]Life Sciences [q-bio]/Immunology
Relation: pasteur-02649234; https://pasteur.hal.science/pasteur-02649234; https://pasteur.hal.science/pasteur-02649234/document; https://pasteur.hal.science/pasteur-02649234/file/S1286457919300693.pdf; PII: S1286-4579(19)30069-3
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4Academic Journal
المؤلفون: Finucane, Hilary K, Reshef, Yakir A, Anttila, Verneri, Slowikowski, Kamil, Gusev, Alexander, Byrnes, Andrea, Gazal, Steven, Loh, Po-Ru, Lareau, Caleb, Shoresh, Noam, Genovese, Giulio, Saunders, Arpiar, Macosko, Evan, Pollack, Samuela, Perry, John R B, Buenrostro, Jason D, Bernstein, Bradley E, Raychaudhuri, Soumya, McCarroll, Steven, Neale, Benjamin M, Price, Alkes L
المصدر: Finucane , H K , Reshef , Y A , Anttila , V , Slowikowski , K , Gusev , A , Byrnes , A , Gazal , S , Loh , P-R , Lareau , C , Shoresh , N , Genovese , G , Saunders , A , Macosko , E , Pollack , S , Brainstorm Consortium , Perry , J R B , Buenrostro , J D , Bernstein , B E , Raychaudhuri , S , McCarroll , S , Neale , B M & Price , A L 2018 , ' Heritability enrichment ....
مصطلحات موضوعية: Bipolar Disorder/genetics, Body Mass Index, Brain/metabolism, Chromatin/genetics, Epigenesis, Genetic, Gene Expression, Gene Expression Profiling/statistics & numerical data, Genetic Predisposition to Disease, Genome-Wide Association Study/statistics & numerical data, Humans, Immune System Diseases/genetics, Linkage Disequilibrium, Models, Multifactorial Inheritance, Neurons/metabolism, Schizophrenia/genetics, Tissue Distribution/genetics, METAANALYSIS, SUSCEPTIBILITY LOCI, GENOME-WIDE ASSOCIATION, PARTITIONING HERITABILITY, SCHIZOPHRENIA, BIPOLAR DISORDER, PREFRONTAL CORTEX, RISK LOCI, BODY-MASS INDEX, COMPLEX TRAITS
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5Academic Journal
المساهمون: Eujin Park, Hye Jin Chang, Jae Il Shin, Beom Jin Lim, Hyeon Joo Jeong, Kyoung Bun Lee, Kyoung Chul Moon, Hee Gyung Kang, Il-Soo Ha, Hae Il Cheong, Shin, Jae Il, Lim, Beom Jin, Jeong, Hyeon Joo
مصطلحات موضوعية: Child, Preschool, Diabetes Mellitus, Type 1/congenital, Type 1/diagnosis, Type 1/genetics, Diarrhea/diagnosis, Diarrhea/genetics, Forkhead Transcription Factors/genetics, Genetic Diseases, X-Linked/diagnosis, X-Linked/genetics, Glomerulonephritis, Membranous/diagnosis, Membranous/genetics, Humans, Immune System Diseases/congenital, Immune System Diseases/diagnosis, Immune System Diseases/genetics, Infant, Newborn, Kidney/pathology, Male, Mutation, Nephrosis, Lipoid/diagnosis, Lipoid/genetics, Siblings, FOXP3, IPEX syndrome
Relation: PEDIATRICS INTERNATIONAL; J02497; OAK-2015-02468; https://ir.ymlib.yonsei.ac.kr/handle/22282913/141628; T201504083; PEDIATRICS INTERNATIONAL, Vol.57(2) : 59-61, 2015
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6Academic Journal
المؤلفون: Netea, Mihai G., Domínguez-Andrés, Jorge, Riksen, Niels P., Schlitzer, Andreas, Schultze, Joachim L., Stabell Benn, Christine, Sun, Joseph C., Xavier, Ramnik J., Latz, Eicke, Barreiro, Luis B., Chavakis, Triantafyllos, Divangahi, Maziar, Fuchs, Elaine, Joosten, Leo A. B., van der Meer, Jos W. M., Mhlanga, Musa M., Mulder, Willem J. M.
المصدر: Nature reviews / Immunology 20(6), 375-388 (2020). doi:10.1038/s41577-020-0285-6
مصطلحات موضوعية: info:eu-repo/classification/ddc/570, Adaptive Immunity: genetics, Adaptive Immunity: immunology, Animals, Epigenesis, Genetic: immunology, Humans, Immune System: immunology, Immune System: metabolism, Immune System Diseases: genetics, Immune System Diseases: immunology, Immune Tolerance: genetics, Immune Tolerance: immunology, Immunity, Innate: genetics, Innate: immunology, Immunologic Memory: genetics, Immunologic Memory: immunology, Inflammation: genetics, Inflammation: immunology
جغرافية الموضوع: DE
Relation: info:eu-repo/semantics/altIdentifier/issn/1474-1741; info:eu-repo/semantics/altIdentifier/pmid/pmid:32132681; info:eu-repo/semantics/altIdentifier/issn/1474-1733; https://pub.dzne.de/record/151066; https://pub.dzne.de/search?p=id:%22DZNE-2020-01051%22
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7
المؤلفون: Davidson, D. J., Currie, A. J., Bowdish, D. M., Brown, K. L., Rosenberger, C. M., Ma, R. C., Bylund, Johan, 1975, Campsall, P. A., Puel, A., Picard, C., Casanova, J. L., Turvey, S. E., Hancock, R. E., Devon, R. S., Speert, D. P.
المصدر: J Immunol. 177(11):8202-11
مصطلحات موضوعية: Medical and Health Sciences, Medicin och hälsovetenskap, Amino Acid Sequence, Blotting, Western, Cytokines/biosynthesis, Extracellular Signal-Regulated MAP Kinases/immunology, Fibroblasts/*immunology, Gene Expression, Humans, Immune System Diseases/*genetics, Interleukin-1 Receptor-Associated Kinases/*genetics, Male, Molecular Sequence Data, Mutation, Myeloid Cells/*immunology, Myeloid Differentiation Factor 88/immunology, NF-kappa B/immunology, Pedigree, RNA, Messenger/analysis, Receptors, Interleukin-1/*immunology, Reverse Transcriptase Polymerase Chain Reaction, Toll-Like Receptors/*immunology, Transcription, Genetic
URL الوصول: https://gup.ub.gu.se/publication/64426
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8Academic Journal
المصدر: Revue medicale suisse, vol. 13, no. 557, pp. 763-766
مصطلحات موضوعية: High-Throughput Nucleotide Sequencing/methods, Humans, Immune System Diseases/diagnosis, Immune System Diseases/genetics, Immunologic Deficiency Syndromes/diagnosis, Immunologic Deficiency Syndromes/genetics, Mutation
وصف الملف: application/pdf
Relation: info:eu-repo/semantics/altIdentifier/pmid/28722367; info:eu-repo/semantics/altIdentifier/pissn/1660-9379; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_5CC64A51219F3; https://serval.unil.ch/notice/serval:BIB_5CC64A51219F; https://serval.unil.ch/resource/serval:BIB_5CC64A51219F.P001/REF.pdf
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9Academic Journal
المؤلفون: Ouahed, J, Kelsen, JR, Spessott, WA, Kooshesh, K, Sanmillan, ML, Dawany, N, Sullivan, KE, Hamilton, KE, Slowik, V, Nejentsev, S, Farela Neves, J, Flores, H, Chung, WK, Wilson, A, Anyane-Yeboa, K, Wou, K, Jain, P, Field, M, Tollefson, S, Dent, MH, Li, D, Naito, T, McGovern, DPH, Kwong, AC, Taliaferro, F, Ordovas-Montanes, J, Horwitz, BH, Kotlarz, D, Klein, C, Evans, J, Dorsey, J, Warner, N, Elkadri, A, Muise, AM, Goldsmith, J, Thompson, B, Engelhardt, KR, Cant, AJ, Hambleton, S, Barclay, A, Toth-Petroczy, A, Vuzman, D, Carmichael, N, Bodea, C, Cassa, CA, Devoto, M, Maas, RL, Behrens, EM, Giraudo, CG, Snapper, SB
المساهمون: Repositório do Centro Hospitalar Universitário de Lisboa Central, EPE
مصطلحات موضوعية: Age of Onset, Exome Sequencing, Genetic Variation / genetics, Hearing Loss, Sensorineural / epidemiology, Hearing Loss, Sensorineural / genetics, Immune System Diseases / epidemiology, Immune System Diseases / genetics, Infant, Newborn, Inflammatory Bowel Diseases / epidemiology, Inflammatory Bowel Diseases / genetics, Qa-SNARE Proteins / analysis, Qa-SNARE Proteins / genetics, HDE GAS PED, HDE INF PED
وصف الملف: application/pdf
Relation: J Crohns Colitis . 2021 Nov 8;15(11):1908-1919
الاتاحة: http://hdl.handle.net/10400.17/4734