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1دورية أكاديمية
المؤلفون: Elena Sindram, Andrés Caballero-Oteyza, Naoko Kogata, Shaina Chor Mei Huang, Zahra Alizadeh, Laura Gámez-Díaz, Mohammad Reza Fazlollhi, Xiao Peng, Bodo Grimbacher, Michael Way, Michele Proietti
المصدر: Disease Models & Mechanisms, Vol 16, Iss 7 (2023)
مصطلحات موضوعية: actin, actinopathy, arp2/3, immunodeficiency, crispr/cas9, Medicine, Pathology, RB1-214
وصف الملف: electronic resource
العلاقة: http://dmm.biologists.org/content/16/7/dmm050145Test; https://doaj.org/toc/1754-8403Test; https://doaj.org/toc/1754-8411Test
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2دورية أكاديمية
المؤلفون: Jessica Rojas-Restrepo, Andrés Caballero-Oteyza, Katrin Huebscher, Hanna Haberstroh, Manfred Fliegauf, Baerbel Keller, Robin Kobbe, Klaus Warnatz, Stephan Ehl, Michele Proietti, Bodo Grimbacher
المصدر: Frontiers in Immunology, Vol 12 (2021)
مصطلحات موضوعية: next-generation sequencing (NGS), targeted gene panel sequencing, hypogammaglobulinemia, common variable immunodeficiency, genetic diagnosis, predominantly antibody deficiency, Immunologic diseases. Allergy, RC581-607
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fimmu.2021.786516/fullTest; https://doaj.org/toc/1664-3224Test
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المؤلفون: Xiao P, Peng, Andrés, Caballero-Oteyza, Bodo, Grimbacher
المصدر: Annual Review of Pathology: Mechanisms of Disease. 18:283-310
مصطلحات موضوعية: Pathology and Forensic Medicine
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7208c17053a3e322d1695318e9fded82Test
https://doi.org/10.1146/annurev-pathmechdis-031521-024229Test -
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المؤلفون: Rensheng Wan, Maximilian Schieck, Andrés Caballero-Oteyza, Winfried Hofmann, Alexis Virgil Cochino, Anna Shcherbina, Roya Sherkat, Clarisse Wache-Mainier, Anita Fernandez, Marc Sultan, Thomas Illig, Bodo Grimbacher, Michele Proietti, Doris Steinemann
المصدر: Journal of Clinical Immunology. 42:1083-1092
مصطلحات موضوعية: Chromosome Aberrations, Cohort Studies, DNA Copy Number Variations, Immune System Diseases, Exome Sequencing, Immunology, Genetic Diseases, Inborn, High-Throughput Nucleotide Sequencing, Humans, Immunology and Allergy
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::80ed90921270c4988677785b7e4fd81cTest
https://doi.org/10.1007/s10875-022-01276-8Test -
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المؤلفون: Elena Sindram, Andrés Caballero-Oteyza, Naoko Kogata, Shaina Huang, Zahra Alizadeh, Laura Gamez-Diaz, Mohammad Reza Fazlollhi, Xiao Peng, Bodo Grimbacher, Michael Way, Michele Proietti
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::a505fbff4c5bbdc026b225d3b249c5b4Test
https://doi.org/10.1101/2023.01.19.524688Test -
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المؤلفون: Paulina Staus, Stephan Rusch, Sabine El-Helou, Gabriele Müller, Máté Krausz, Ulf Geisen, Andrés Caballero-Oteyza, Renate Krüger, Shahrzad Bakhtiar, Min Ae Lee-Kirsch, Maria Fasshauer, Ulrich Baumann, Bimba Franziska Hoyer, João Farela Neves, Michael Borte, Maria Carrabba, Fabian Hauck, Stephan Ehl, Peter Bader, Horst von Bernuth, Faranaz Atschekzei, Mikko R. J. Seppänen, Klaus Warnatz, Alexandra Nieters, Gerhard Kindle, Bodo Grimbacher
المساهمون: Comprehensive Health Research Centre (CHRC) - pólo NMS, NOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM)
مصطلحات موضوعية: Inborn error of immunity, Primary immunodeficiency, Epidemiology, Immunology, Autoinflammation, Immunology and Allergy, Autoimmunity, Immune-dysregulation, Rare diseases
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23e214c1af43f2e99ff7514cb950f136Test
https://hdl.handle.net/10362/152437Test -
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المؤلفون: Sara Posadas-Cantera, Bodo Grimbacher, Nadezhda Camacho-Ordonez, Andrés Caballero-Oteyza, Neftali Jose Ramirez
المصدر: Current Opinion in Immunology. 72:176-185
مصطلحات موضوعية: 0301 basic medicine, Genotype, Immunology, Autoimmunity, Hypogammaglobulinemia, 03 medical and health sciences, 0302 clinical medicine, Bone Marrow, PMS2, Humans, Immunology and Allergy, Medicine, Genetic Predisposition to Disease, Exome, PLCG2, Gene, Alleles, Genetic Association Studies, business.industry, Common variable immunodeficiency, medicine.disease, Phenotype, Common Variable Immunodeficiency, 030104 developmental biology, Amino Acid Substitution, Mutation, Primary immunodeficiency, Disease Susceptibility, business, Biomarkers, 030215 immunology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::141118832b8da9c5b5fef54c923c433fTest
https://doi.org/10.1016/j.coi.2021.05.010Test -
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المؤلفون: Kathleen E. Sullivan, Paul Gray, Debayan Dey, Lars M. Koenig, Daniel F. R. Boehmer, Davide Montin, Matthias Griese, Tomohiro Morio, Tsubasa Okano, Hirokazu Kanegane, Thomas Magg, Francesco Licciardi, Samantha L. Schwartz, Julia Ley-Zaporozhan, Andrés Caballero-Oteyza, Meino Rohlfs, Karl Reiter, Esther N. Park, Jennifer Heimall, Kazutoshi Cho, Michael H. Albert, Brenda M. Calderon, Kento Inoue, Christoph Walz, Christoph Klein, Fabian Hauck, Ronald M. Ferdman, Graeme L. Conn
مصطلحات موضوعية: 0301 basic medicine, Heterozygote, RNase P, 2',5'-Oligoadenylate Synthetase, B-Lymphocytes, Cells, Cultured, DNA Mutational Analysis, Endoribonucleases, Enzyme Assays, Gain of Function Mutation, Gene Knockout Techniques, Hematopoietic Stem Cell Transplantation, Hereditary Autoinflammatory Diseases, Humans, Infant, Infant, Newborn, Interferon Type I, Macrophages, Molecular Dynamics Simulation, Monocytes, Primary Cell Culture, Primary Immunodeficiency Diseases, Recombinant Proteins, Signal Transduction, Cells, Immunology, 03 medical and health sciences, 0302 clinical medicine, Immunity, medicine, Macrophage, Immunodeficiency, B cell, Cultured, biology, Monocyte, General Medicine, medicine.disease, Newborn, Transplantation, 030104 developmental biology, medicine.anatomical_structure, 030220 oncology & carcinogenesis, biology.protein, 2', Ribonuclease L, 5'-Oligoadenylate Synthetase
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c5d3086f2b9ce81b7c525bee36de15aTest
https://hdl.handle.net/2318/1878269Test -
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المؤلفون: Thomas, Magg, Tsubasa, Okano, Lars M, Koenig, Daniel F R, Boehmer, Samantha L, Schwartz, Kento, Inoue, Jennifer, Heimall, Francesco, Licciardi, Julia, Ley-Zaporozhan, Ronald M, Ferdman, Andrés, Caballero-Oteyza, Esther N, Park, Brenda M, Calderon, Debayan, Dey, Hirokazu, Kanegane, Kazutoshi, Cho, Davide, Montin, Karl, Reiter, Matthias, Griese, Michael H, Albert, Meino, Rohlfs, Paul, Gray, Christoph, Walz, Graeme L, Conn, Kathleen E, Sullivan, Christoph, Klein, Tomohiro, Morio, Fabian, Hauck
المصدر: Sci Immunol
مصطلحات موضوعية: B-Lymphocytes, Heterozygote, Macrophages, Primary Immunodeficiency Diseases, DNA Mutational Analysis, Hereditary Autoinflammatory Diseases, Primary Cell Culture, Hematopoietic Stem Cell Transplantation, Infant, Newborn, Infant, Molecular Dynamics Simulation, Monocytes, Recombinant Proteins, Article, Gene Knockout Techniques, Gain of Function Mutation, Endoribonucleases, Interferon Type I, 2',5'-Oligoadenylate Synthetase, Humans, Cells, Cultured, Enzyme Assays, Signal Transduction
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::7c6684f1754f5d95c5f113d3daad0819Test
https://pubmed.ncbi.nlm.nih.gov/34145065Test -
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المؤلفون: Jessica Rojas-Restrepo (11848046), Andrés Caballero-Oteyza (11848049), Katrin Huebscher (11848052), Hanna Haberstroh (11848055), Manfred Fliegauf (391677), Baerbel Keller (9544397), Robin Kobbe (86068), Klaus Warnatz (322199), Stephan Ehl (67775), Michele Proietti (6591506), Bodo Grimbacher (50586)
مصطلحات موضوعية: Immunology, Applied Immunology (incl. Antibody Engineering, Xenotransplantation and T-cell Therapies), Autoimmunity, Cellular Immunology, Humoural Immunology and Immunochemistry, Immunogenetics (incl. Genetic Immunology), Innate Immunity, Transplantation Immunology, Tumour Immunology, Immunology not elsewhere classified, Genetic Immunology, Animal Immunology, Veterinary Immunology, next-generation sequencing (NGS), targeted gene panel sequencing, hypogammaglobulinemia, common variable immunodeficiency, genetic diagnosis, predominantly antibody deficiency, primary immunodeficiency