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المؤلفون: Jawdat Hafez, Jill S. Kawalec, Hetherington Vj, Kelly Capuder, Christopher Gill
المصدر: The Foot. 39:88-91
مصطلحات موضوعية: musculoskeletal diseases, 030203 arthritis & rheumatology, business.industry, Bone Screws, Sterilization, Dentistry, Mechanical integrity, 030229 sport sciences, Sterilization (microbiology), musculoskeletal system, equipment and supplies, Steam sterilization, Biomechanical Phenomena, Bone screws, Steam, 03 medical and health sciences, surgical procedures, operative, 0302 clinical medicine, Materials Testing, Medicine, Orthopedics and Sports Medicine, Podiatry, business
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المؤلفون: Douglas Ryan, Nicole Luche, Sevgi Keles, Maria K. Lehtinen, Luigi D. Notarangelo, Kelly Capuder, Melody P. Lun, Ismail Reisli, Morgan L. Shannon
المصدر: Am J Pathol
مصطلحات موضوعية: 0301 basic medicine, Male, Microcephaly, LIG4 syndrome, Central nervous system, Apoptosis, LIG4, Biology, Article, Pathology and Forensic Medicine, Craniofacial Abnormalities, 03 medical and health sciences, DNA Ligase ATP, Mice, 0302 clinical medicine, Spatio-Temporal Analysis, medicine, Animals, DNA Breaks, Double-Stranded, Gene Knock-In Techniques, Growth Disorders, chemistry.chemical_classification, Cerebral Cortex, Neurons, DNA ligase, Neurogenesis, fungi, Immunologic Deficiency Syndromes, medicine.disease, Non-homologous end joining, Disease Models, Animal, 030104 developmental biology, medicine.anatomical_structure, chemistry, Cerebral cortex, Mutation, Female, Neuroscience, 030217 neurology & neurosurgery
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المؤلفون: Beryl Royer-Bertrand, Fabienne E. Poulain, Pietro Luigi Poliani, Luigi D. Notarangelo, Ellen van Rooijen, Ileana Bortolomai, Hye Sun Kuehn, Elliott J. Hagedorn, Robert J. Linhardt, Leonard I. Zon, Luisa Imberti, Pyong Woo Park, Genni Enza Marcovecchio, Atsuko Hayashida, Anne Slavotinek, George Freedman, Kerry Dobbs, Stefano Volpi, Prisni Rath, Patrick M. Brauer, Yasuhiro Yamazaki, Maja Di Rocco, Alberto Martini, Kazutaka Hayashida, Kelly Capuder, Juan Carlos Zúñiga-Pflücker, Sergio D. Rosenzweig, Marita Bosticardo, John P. Manis, Silvia Giliani, Andrea Superti-Furga, Jennifer M. Puck, Carlo Rivolta, Kerstin Felgentreff, Lisa Ott de Bruin, Nicole Luche, Antonella Buoncompagni, Hane Lee, Likun Du
المصدر: The Journal of experimental medicine, vol 214, iss 3
The Journal of experimental medicine, vol. 214, no. 3, pp. 623-637
The Journal of Experimental Medicineمصطلحات موضوعية: 0301 basic medicine, Developmental Disabilities, medicine.disease_cause, Fibroblast growth factor, Medical and Health Sciences, chemistry.chemical_compound, Immunology and Allergy, 2.1 Biological and endogenous factors, Developmental, Animals, Bone Diseases, Developmental, Child, Preschool, Female, Heparitin Sulfate, Humans, Immunologic Deficiency Syndromes, Induced Pluripotent Stem Cells, Infant, Lymphocytes, N-Acetylglucosaminyltransferases, Zebrafish, Mutation, Immunology, Aetiology, Induced pluripotent stem cell, Child, Research Articles, Pediatric, biology, Stem Cell Research - Induced Pluripotent Stem Cell - Human, Heparan sulfate, 3. Good health, Cell biology, Stem Cell Research - Nonembryonic - Non-Human, Bone Diseases, 03 medical and health sciences, Immune system, Rare Diseases, medicine, Genetics, Progenitor cell, Preschool, Stem Cell Research - Induced Pluripotent Stem Cell, Brief Definitive Report, medicine.disease, biology.organism_classification, Stem Cell Research, Molecular biology, 030104 developmental biology, chemistry, Dysplasia, Congenital Structural Anomalies
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::89ebb94df5b44febc6eafe227af51d7c
https://escholarship.org/uc/item/7bg3j769 -
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المؤلفون: Marina Cella, Susan Gilfillan, Marco Colonna, Alexander D. Barrow, Lih-Ling Lin, Michelle L. Robinette, Tyler K. Ulland, Jean Baptiste Telliez, Luigi D. Notarangelo, Kelly Capuder
المصدر: Mucosal immunology
مصطلحات موضوعية: 0301 basic medicine, Immunology, Bone Marrow Cells, Biology, Article, Arthritis, Rheumatoid, 03 medical and health sciences, Interferon-gamma, Mice, 0302 clinical medicine, Immune system, Piperidines, medicine, Immunology and Allergy, Animals, Humans, Pyrroles, human, Progenitor cell, development, Immunodeficiency, Cells, Cultured, Janus kinase inhibitor, Cell Proliferation, Severe combined immunodeficiency, Tofacitinib, Janus kinase 3, Innate lymphoid cell, Janus Kinase 3, Cell Differentiation, medicine.disease, Immunity, Innate, Mice, Mutant Strains, 3. Good health, Killer Cells, Natural, 030104 developmental biology, Phenotype, Pyrimidines, ILC, 030220 oncology & carcinogenesis, Mutation, Severe Combined Immunodeficiency, innate immune, Jak3, immunodeficiency
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المؤلفون: Kerry Dobbs, Roshini S. Abraham, Michel J. Masaad, Raif S. Geha, Morton J. Cowan, Mehdi Adeli, Karin Chen, Joao Bosco Oliveira, Kari C. Nadeau, Divij Mathew, Jolan E. Walter, Paolo Palma, Rima Wakim, Jack J. Bleesing, Antonio Condino-Neto, Yu Nee Lee, Janet Chou, Paul J. Utz, Lindsey B. Rosen, David Buchbinder, Catharina Schuetz, Chiara Azzari, Jennifer M. Puck, Sarah K. Browne, Michael Grimley, Boglarka Ujhazi, Harry L. Malech, Javeed Akhter, Imelda Balboni, Tim Niehues, Mike Recher, Steven M. Holland, Chaim M. Roifman, Caterina Cancrini, Kathleen E. Sullivan, Luigi D. Notarangelo, Irit Tirosh, Ghassan Dbaibo, Beatriz Tavares Costa-Carvalho, Andrew R. Gennery, Rebecca Gelman, Jacob M. Rosenberg, José Luis Franco, Christina S.K. Yee, Dalia H. El-Ghoneimy, Attila Kumánovics, Waleed Al-Herz, Manish J. Butte, Marton Keszei, Reem Elfeky, Suk See De Ravin, Gulbu Uzel, Kelly Capuder, Avni Y. Joshi, Krisztian Csomos, Taco W. Kuijpers, Thomas G. Boyce
المساهمون: AII - Amsterdam institute for Infection and Immunity, Paediatric Infectious Diseases / Rheumatology / Immunology
المصدر: Walter, JE; Rosen, LB; Csomos, K; Rosenberg, JM; Mathew, D; Keszei, M; et al.(2015). Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency. Journal of Clinical Investigation, 125(11), 4135-4148. doi: 10.1172/JCI80477. UCSF: Retrieved from: http://www.escholarship.org/uc/item/2zw8w5m6
The Journal of clinical investigation
The Journal of clinical investigation, vol 125, iss 11
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Journal of clinical investigation, 125(11), 4135-4148. The American Society for Clinical Investigationمصطلحات موضوعية: DOENÇAS GENÉTICAS, Male, Interferon-Induced Helicase, IFIH1, Inbred Strains, medicine.disease_cause, Granulomatous Disease, Chronic, Medical and Health Sciences, Autoantigens, Autoimmunity, DEAD-box RNA Helicases, Mice, 0302 clinical medicine, Antibody Specificity, 2.1 Biological and endogenous factors, Aetiology, Chronic, Interferon-Induced Helicase, Child, Neutralizing, Immunodeficiency, IFIH1, 0303 health sciences, Toll-Like Receptors, Nuclear Proteins, General Medicine, 3. Good health, DNA-Binding Proteins, Infectious Diseases, Settore MED/02, Virus Diseases, Child, Preschool, Cytokines, Female, Granulomatous Disease, Corrigendum, Research Article, Biotechnology, Adult, Adolescent, Immunology, Mice, Inbred Strains, Biology, Autoimmune Disease, Antibodies, Autoimmune Diseases, 03 medical and health sciences, Young Adult, Immune system, Genetics, medicine, Animals, Humans, Inflammatory and Immune System, Preschool, 030304 developmental biology, Autoantibodies, Autoimmune disease, Homeodomain Proteins, Severe combined immunodeficiency, Animal, Autoantibody, Infant, Immune dysregulation, medicine.disease, Virology, Antibodies, Neutralizing, SCID, RAG-1, autoantibodies, children, Omenn syndrome, Disease Models, Animal, Disease Models, Severe Combined Immunodeficiency, 030215 immunology
وصف الملف: application/pdf
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المؤلفون: Ergin Çiftçi, Kerry Dobbs, David Goldstein, Roberta E. Parrott, Samuli Rounioja, Cecilia Domínguez Conde, Ornella Patrizi, Kaan Boztug, Satoshi Okada, Janna Saarela, Emma Haapaniemi, Janet Chou, Yuval Itan, Mikael Knip, Talal A. Chatila, Berna Savaş, Luigi D. Notarangelo, Axel Schambach, Anne Marie Comeau, Michael Schuster, Sule Haskologlu, Merja Helminen, Michel J. Massaad, Alessandro Moretta, Pierre Lebon, Ivan Bilic, Flore Rozenberg, Silvia Parolini, Raif S. Geha, Sevgi Keles, Jean-Laurent Casanova, Rebecca H. Buckley, Giovanna Tabellini, Figen Dogu, Toshiro K. Ohsumi, Kerstin Felgentreff, Laurent Abel, Magali Audry, Christoph Bock, Aydan Ikinciogullari, Nina K. Serwas, Shen-Ying Zhang, Waleed Al-Herz, Bertrand Boisson, Adel M Alwahadneh, Vincent Pedergnana, Arzu Ensari, Kelly Capuder, Slavé Petrovski
المساهمون: Herrada, Anthony, Boston Children's Hospital, Harvard Medical School [Boston] (HMS), Research Center for Molecular Medicine of the Austrian Academy of Sciences [Vienna, Austria] (CeMM ), Austrian Academy of Sciences (OeAW), St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller University [New York], Imagine - Institut des maladies génétiques (IMAGINE - U1163), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), University of Brescia, Helsingin yliopisto = Helsingfors universitet = University of Helsinki, Necmettin Erbakan University [Konya, Turquie], Tampere University Hospital, Ankara University School of Medicine [Turkey], Massachusetts General Hospital [Boston, MA, USA], Università degli studi di Genova = University of Genoa (UniGe), Institute for Molecular Medicine Finland [Helsinki] (FIMM), Helsinki Institute of Life Science (HiLIFE), Helsingin yliopisto = Helsingfors universitet = University of Helsinki-Helsingin yliopisto = Helsingfors universitet = University of Helsinki, Children's Hospital, Folkhälsan Research Center, Faculty of Medecine [Helsinki], Columbia University [New York], Duke University [Durham], Hannover Medical School [Hannover] (MHH), University of Massachusetts Medical School [Worcester] (UMASS), University of Massachusetts System (UMASS), Kuwait University, CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Howard Hughes Medical Institute [Chevy Chase] (HHMI), Howard Hughes Medical Institute (HHMI), Medizinische Universität Wien = Medical University of Vienna, Harvard Stem Cell Institute [Cambridge, USA] (HSCI), Harvard University [Cambridge]
المصدر: New England Journal of Medicine
New England Journal of Medicine, 2015, 372 (25), pp.2409-2422. ⟨10.1056/NEJMoa1413462⟩مصطلحات موضوعية: Male, rac1 GTP-Binding Protein, MESH: Fatal Outcome, [SDV]Life Sciences [q-bio], Lymphocyte, medicine.medical_treatment, T-Lymphocytes, MESH: GTPase-Activating Proteins, Hematopoietic stem cell transplantation, Fatal Outcome, Interferon, MESH: Guanine Nucleotide Exchange Factors, Guanine Nucleotide Exchange Factors, Killer Cells, Child, B-Lymphocytes, Medicine (all), Hematopoietic Stem Cell Transplantation, General Medicine, MESH: Infant, 3. Good health, Pedigree, [SDV] Life Sciences [q-bio], medicine.anatomical_structure, Genetic Diseases, Natural, Female, Child, Preschool, Genes, Recessive, Genetic Diseases, Inborn, Humans, Immunologic Deficiency Syndromes, Infant, Killer Cells, Natural, Mutation, medicine.drug, MESH: Killer Cells, Natural, MESH: Genetic Diseases, Inborn, MESH: Mutation, MESH: Immunologic Deficiency Syndromes, MESH: Pedigree, Combined immunodeficiencies, Immunity, MESH: B-Lymphocytes, medicine, Recessive, Preschool, MESH: Genes, Recessive, MESH: Hematopoietic Stem Cell Transplantation, MESH: Humans, MESH: rac1 GTP-Binding Protein, business.industry, MESH: Child, Preschool, medicine.disease, MESH: Male, Transplantation, MESH: T-Lymphocytes, Inborn, Genes, Humoral immunity, Immunology, Primary immunodeficiency, business, MESH: Female
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المؤلفون: Divij Mathew, Douglas Ryan, Fabio Candotti, Katrina Abernethy, Eva Csizmadia, Adrian J. Thrasher, Kelly Capuder, Mike Recher, Scott B. Snapper, Stefano Volpi, Carin I. M. Dahlberg, Luigi D. Notarangelo, Masayuki Mizui, Elettra Santori, Lisa S. Westerberg, George C. Tsokos
المصدر: Blood
مصطلحات موضوعية: 0301 basic medicine, Wiskott–Aldrich syndrome, Neuronal, Knockout, Immunology, Receptors, Antigen, B-Cell, Wiskott-Aldrich Syndrome Protein, Neuronal, Autoimmunity, macromolecular substances, Biology, medicine.disease_cause, Biochemistry, 03 medical and health sciences, Mice, Antigen, Receptors, medicine, Animals, B cell, Immunodeficiency, Mice, Knockout, B-Lymphocytes, Autoantibody, breakpoint cluster region, B-Cell, Cell Differentiation, Hematology, Cell Biology, medicine.disease, 3. Good health, Wiskott-Aldrich Syndrome, B-1 cell, 030104 developmental biology, medicine.anatomical_structure, Gene Deletion, Signal Transduction, Wiskott-Aldrich Syndrome Protein
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::36bb509fb1169961b0c4e0af4f568bae
http://hdl.handle.net/11567/894993
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