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1دورية أكاديمية
المؤلفون: Toubiana, Julie, Okada, Satoshi, Hiller, Julia, Oleastro, Matias, Gomez, Macarena Lagos, Becerra, Juan Carlos Aldave, Ouachãe chardin, Marie, Fouyssac, Fanny, Girisha, Katta Mohan, Etzioni, Amos, Van Montfrans, Joris, Camcioglu, Yildiz, Kerns, Leigh Ann, Belohradsky, Bernd, Blanche, Stephane, Bousfiha, Aziz, Rodriguez gallego, Carlos, Meyts, Isabelle, Kisand, Kai, Reichenbach, Janine, Renner, Ellen D. , Rosenzweig, Sergio, Grimbacher, Bodo, Van De Veerdonk, Frank L. , Traidl hoffmann, Claudia, Picard, Capucine, Marodi, Laszlo, Morio, Tomohiro, Kobayashi, Masao, Lilic, Desa, Milner, Joshua D. , Holland, Steven, Casanova, Jean Laurent, Puel, Anne, Cypowyj, Sophie, Caroline Thumerelle, Antoine Toulon, Jacinta Bustamante, Natalia Tahuil, Aicha Salhi, Sorina Boiu, Charu Chopra, Daniela Di Giovanni, Liliana Bezrodnik, JeannetteBoutros, Caroline Thomas, Gina Lacuesta, Sarah Jannier, Anne-Sophie Korganow, Catherine Paillard, David Boutboul, M ́elanie Bu ́e, Aude Marie-Cardine, Sophie Bayart, Mélanie Migaud, Laurence Weiss, Marina Karmochkine, Juan-Miguel Garcia-Martinez, Jean-Louis Stephan, Philippe Bensaid, Guy-Patrick Jeannoel, Torsten Witte, Ulrich Baumann, Thomas Harrer, Carmen Navarrete, Antony Terance Benjamin, Davide Firinu, Claudio Pignata, Paolo Picco, David Mendoza, Saul Oswaldo Lugo Reyes, Carlos Torres Lozano, MargaritaOrtega-Cisneros, Mariana Cortina, Mehrnaz Mesdaghi, MohammadNabavi, Teresa Español, Maia Teresa Martinez- Saavedra, Nima Rezaei, Samaneh Zoghi, Malgorzata Pac, Vincent Barlogis, Gabriel Revon-Rivire, Yishai Haimi-Cohen, Ronen Spiegel, Dan Miron, Jabir Bouchaib, Lizbeth Blancas-Galicia, Beata Toth, Barbara Drexel, Pierre Simon Roherlich, Olivier Lesens, Miriam Hoernes, Elizabeth Drewe, Mario Abinum, Julie Sawalle-Belohradsky, Gerhard Kindle, Mark Depner, Lili Milani, Tiit Nikopensius, Maido Remm, Ulvi Gerst Talas, Mark Tucker, Mary Willis, Stephanie Leonard, Hilaire Meuwissen, Ronald M. Ferdman, Mark Wallace, Mukesh M. Desai, Prasad Taur, Raffaele Badolato, Beata Soltesz, Christina Schnopp, Annette F. Jansson, Deniz Ayvaz, Nadejda Shabashova, Liudmyla Chernyshova, Anastasia Bondarenko, Despina Moshous, Benedicte Neven, Chahinez Boubidi, Fatima Ailal, Giuliana Giardino, Stefano Del Giacco, Marie-Elisabeth Bougnoux, Kohsuke Imai, Teppei Okawa, Yoko Mizoguchi, Yusuke Ozaki, Masato Takeuchi, Akira Hayakawa, Birgit Logering, Kristian Reich, Timo Buhl, Kilian Eyerich, Martin Schaller, Peter D. Arkwright, Andrew R. Gennery, Andrew J. Cant, Adilia Warris, Stefanie Henriet, Najla Mekki, Ridha Barbouche, Imen BenMustapha, Christine Bodemer, Michel Polak, EmmanuelGrimprel, Pierre-R ́egis Burgel, Alain Fischer, Olivier Hermine, Marianne Debr ́e, Dilara Kocacyk, Fatima Dhalla, Smita Y. Patel, Leen Moens, Filomeen Haerynck, Melissa Dullaers, Levi Hoste, Ozden Sanal, Sara Sebnem Kilic, Joachim Roesler, Fanny Lanternier, Olivier Lortholary, Claire Fieschi, Joseph A. Church, Chaim Roifman, Araya Yuenyongviwat, Part Peterson, Stéphanie Boisson-Dupuis, Laurent Abel, Beatriz E. Marciano, Mihai G. Netea
المساهمون: Toubiana, Okada, Julie, Hiller, Satoshi, Oleastro, Julia, Gomez, Matia, Becerra, Macarena Lago, Ouachãe chardin, Juan Carlos Aldave, Fouyssac, Marie, Girisha, Fanny, Etzioni, Katta Mohan, Van Montfrans, Amo, Camcioglu, Jori, Kerns, Yildiz, Belohradsky, Leigh Ann, Blanche, Bernd, Bousfiha, Stephane, Rodriguez gallego, Aziz, Meyts, Carlo, Kisand, Isabelle, Reichenbach, Kai, Renner, Janine, Rosenzweig, Ellen D., Grimbacher, Sergio, Van De Veerdonk, Bodo, Traidl hoffmann, Frank L., Picard, Claudia, Marodi, Capucine, Morio, Laszlo, Kobayashi, Tomohiro, Lilic, Masao, Milner, Desa, Holland, Joshua D., Casanova, Steven, Puel, Jean Laurent, Cypowyj, Anne, Sophie, Thumerelle, Caroline, Toulon, Antoine, Bustamante, Jacinta, Tahuil, Natalia, Salhi, Aicha, Boiu, Sorina, Chopra, Charu, Di Giovanni, Daniela, Bezrodnik, Liliana, Jeannetteboutros, Thomas, Caroline, Lacuesta, Gina, Jannier, Sarah, Korganow, Anne-Sophie, Paillard, Catherine, Boutboul, David, Bu ́e, M ́elanie, Marie-Cardine, Aude, Bayart, Sophie, Migaud, Mélanie, Weiss, Laurence, Karmochkine, Marina, Garcia-Martinez, Juan-Miguel, Stephan, Jean-Loui, Bensaid, Philippe, Jeannoel, Guy-Patrick, Witte, Torsten, Baumann, Ulrich, Harrer, Thoma, Navarrete, Carmen, Terance Benjamin, Antony, Firinu, Davide, Pignata, Claudio, Picco, Paolo, Mendoza, David, Oswaldo Lugo Reyes, Saul, Torres Lozano, Carlo, MargaritaOrtega-Cisneros, Cortina, Mariana, Mesdaghi, Mehrnaz, Mohammadnabavi, Español, Teresa, Teresa Martinez- Saavedra, Maia, Rezaei, Nima, Zoghi, Samaneh, Pac, Malgorzata, Barlogis, Vincent, Revon-Rivire, Gabriel, Haimi-Cohen, Yishai, Spiegel, Ronen, Miron, Dan, Bouchaib, Jabir, Blancas-Galicia, Lizbeth, Toth, Beata, Drexel, Barbara, Simon Roherlich, Pierre, Lesens, Olivier, Hoernes, Miriam, Drewe, Elizabeth, Abinum, Mario, Sawalle-Belohradsky, Julie, Kindle, Gerhard, Depner, Mark, Milani, Lili
مصطلحات موضوعية: Adolescent, Adult, Aged, Candidiasis, Chronic mucocutaneou, Child, preschool, Cohort studie, Female, Genetic predisposition to disease, Heterozygote, Human, Infant, Male, Middle aged, Phenotype, STAT1 transcription factor, Young adult, Genetic association studie, Mutation, Biochemistry, Immunology, Hematology, Cell biology
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/27114460; info:eu-repo/semantics/altIdentifier/wos/WOS:000378337700009; volume:127; issue:25; firstpage:3154; lastpage:3164; numberofpages:11; journal:BLOOD; http://hdl.handle.net/11584/225549Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84977482520; http://www.bloodjournal.org/content/bloodjournal/127/25/3154.full.pdfTest
الإتاحة: https://doi.org/10.1182/blood-2015-11-679902Test
http://hdl.handle.net/11584/225549Test
http://www.bloodjournal.org/content/bloodjournal/127/25/3154.full.pdfTest -
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المؤلفون: Carolyn Henderson, Bernd H. Belohradsky, Amy P. Hsu, Annette Boos, Anne Langenbeck, Beate Hagl, King F. Kwong, Pamela Welch, Julie Sawalle-Belohradsky, Lisa Boris, Ellen D. Renner, Steven M. Holland, Kenneth N. Olivier, Joie Davis, Alexandra F. Freeman, Beatriz E. Marciano
المصدر: Journal of Clinical Immunology. 33:896-902
مصطلحات موضوعية: Adult, Lung Diseases, Male, STAT3 Transcription Factor, medicine.medical_specialty, Adolescent, Immunology, Bronchopleural fistula, Young Adult, Parenchyma, medicine, Humans, Immunology and Allergy, Child, Lung, Retrospective Studies, Wound Healing, Bronchiectasis, business.industry, Medical record, Retrospective cohort study, Middle Aged, medicine.disease, Surgery, medicine.anatomical_structure, Child, Preschool, Mutation, Primary immunodeficiency, Female, business, Complication, Job Syndrome
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf493785d8b3db9e6d003bac99c8995aTest
https://doi.org/10.1007/s10875-013-9890-5Test -
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المؤلفون: Janet Chou, Emily M. Mace, Kathleen E. Sullivan, Michael H. Albert, Linda Monaco-Shawver, Raif S. Geha, Alexandra F. Freeman, Waleed Al-Herz, William Bernal, Pinaki P. Banerjee, Valerie Heinz, Melissa C. Mizesko, Jordan S. Orange, Ellen D. Renner, Troy R. Torgerson, Steven M. Holland, Imelda C. Hanson, Julie Sawalle-Belohradsky, Bernd H. Belohradsky
المصدر: Journal of Allergy and Clinical Immunology. 131:840-848
مصطلحات موضوعية: Adult, Male, Adolescent, Wiskott–Aldrich syndrome, Immunology, Cell, macromolecular substances, Biology, Filamentous actin, Article, Interleukin 21, medicine, Guanine Nucleotide Exchange Factors, Humans, Immunology and Allergy, Child, Lymphokine-activated killer cell, Immunologic Deficiency Syndromes, Infant, medicine.disease, Actins, Killer Cells, Natural, medicine.anatomical_structure, Lytic cycle, Child, Preschool, Female, Dock8, K562 Cells, DOCK8 Deficiency
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::804c29dc74e3a92d970e454a354ea309Test
https://doi.org/10.1016/j.jaci.2012.12.1568Test -
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المؤلفون: Bernd H. Belohradsky, Miriam Hoernes, Sophie Cypowyj, Janine Reichenbach, Saleh Al-Muhsen, Magali Audry, Joachim Roesler, Amos Etzioni, Francisco Espinosa Rosales, Matías Oleastro, Luyan Liu, Tatiana Kochetkov, Viktor P. Chernyshov, Olivier Lortholary, Cécile Masson, Julie Toubiana, Stéphane Blanche, Caroline Thumerelle, Reinhard Seger, Dan Engelhard, Beáta Tóth, Yuval Itan, Lizbeth Blancas-Galicia, Patrick Nitschke, Gizi Wildbaum, Ludmyla Chernyshova, Avinash Abhyankar, Jérome Flatot, Ellen D. Renner, Ileana Maria Madrigal Beas, Xiao-Fei Kong, Maya Chrabieh, Antoine Toulon, Capucine Picard, Masao Kobayashi, László Maródi, J. Hiller, Alexandra Y. Kreins, Christine Bodemer, Julie Sawalle-Belohradsky, Alexandre Bolze, Claudia Traidl-Hoffmann, Stéphanie Boisson-Dupuis, Jean-Laurent Casanova, Anastasia Bondarenko, Alain Fischer, Emmanuelle Jouanguy, Laurent Abel, Theresia Kusuma, Nathan Karin, Rosa María Cortés Grimaldo, Pierre-Régis Burgel, Alessandro Borghesi, Annette Jansson, Anne Puel, Mélanie Bué, Jacinta Bustamante, Kilian Eyerich, Mélanie Migaud, Carlos Torres Lozano, Stefanie Eyerich, Barbara Drexel, Sara Sebnem Kilic, Klaus Magdorf, Satoshi Okada, Vera Gulácsy
المساهمون: Uludağ Üniversitesi/Tıp Fakültesi/Çocuk Sağlığı ve Hastalıkları Anabilim Dalı., Kılıç, Sara Şebnem, University of Zurich, Puel, A
المصدر: The Journal of Experimental Medicine
J. Exp. Med. 208, 1635-1648 (2011)مصطلحات موضوعية: Male, Models, Molecular, medicine.medical_treatment, T-Lymphocytes, Job Syndrome, Mucocutaneous Candidiasis, Mutation, Fluorescent Antibody Technique, Interleukin 6, Electrophoretic Mobility Shift Assay, Receptor, Interferon alpha-beta, Gene, Interleukin 22, 0302 clinical medicine, Hyper-ige syndrome, Interleukin 17, Gain of function mutation, T lymphocyte, Immunology and Allergy, Disease, Chronic mucocutaneous candidiasis, Sequencing-based discovery, hyper-ige syndrome, sequencing-based discovery, cd4(+) t-cells, th17 cells, inborn-errors, ifn-gamma, th17-associated cytokines, deficiency, disease, il-27, Phosphorylation, Child, Dominance (genetics), Priority journal, Allele, 0303 health sciences, Heterozygosity, Candidiasis, Chronic Mucocutaneous, Interleukin-17, Flow Cytometry, 3. Good health, Pedigree, Cytokine, STAT1 Transcription Factor, 2723 Immunology and Allergy, Deficiency, Mucocutaneous candidiasis, Female, Cd4(+) t-cells, Inborn-errors, Human, Il-27, Interleukin 17F, Clinical article, Immunology, Immunoblotting, Molecular Sequence Data, Research & experimental medicine, 610 Medicine & health, Enzyme-Linked Immunosorbent Assay, Biology, Chronic disease, Article, 03 medical and health sciences, Interferon-gamma, Germline mutation, Immunity, STAT1 protein, Stat 1 gene, medicine, Autosomal dominant disorder, Humans, Th17-associated cytokines, ddc:610, Th17 cells, Medicine, research & experimental, Germ-Line Mutation, 030304 developmental biology, 2403 Immunology, Base Sequence, Interleukins, Infant, Heterozygote advantage, Sequence Analysis, DNA, medicine.disease, Interleukin 21, 10036 Medical Clinic, Interferons, Ifn-gamma, Sequence Alignment, 030215 immunology
وصف الملف: application/pdf; LiuL,_2011.pdf - application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f22afce4bf3f7b792989039cf399f52Test
http://europepmc.org/articles/PMC3149226Test -
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المؤلفون: Julie Sawalle-Belohradsky, Beate Hagl, H. Bobby Gaspar, Gundula Notheis, Ferah Genel, László Maródi, Abbas Hawwari, Stephan Ehl, Kirsten Bienemann, Fatih Mehmet Azik, Ilhan Tezcan, Deniz Cagdas Ayvaz, Zobaida Alsum, Larysa Kostyuchenko, Hans D. Ochs, Valerie Heinz, Oscar Porras, Waleed Al-Herz, Gregor Dückers, Daifulah Al-Zahrani, Sara Sebnem Kilic, Vincent Barlogis, Talal A. Chatila, Leena Kainulainen, Robbert G. M. Bredius, Joris M. van Montfrans, Betul Tavil, Karin R. Engelhardt, Benjamin Gathmann, Ashish R Kumar, Jens Thiel, Michael H. Albert, Alexandra F. Freeman, Andrew R. Gennery, Neslihan Edeer Karaca, Raif S. Geha, Sevgi Keles, Susanne Matthes-Martin, Roland C. Aydin, Ansgar Schulz, Sung-Yun Pai, Ayse Metin, Capucine Picard, Ozden Sanal, Marianne Ifversen, Bernd H. Belohradsky, Steven M. Holland, Manfred Hönig, Bodo Grimbacher, S. Aydin, Jordan S. Orange, Nima Rezaei, Helen Su, Ellen D. Renner, Carl Philipp Schwarze, Taco W. Kuijpers, Necil Kutukculer, Hamoud Al-Mousa, Jordan K. Abbott, Zeina Baz, Caner Aytekin, Luis Ignacio Gonzalez-Granado
المساهمون: AII - Amsterdam institute for Infection and Immunity, Paediatric Infectious Diseases / Rheumatology / Immunology
المصدر: Journal of Clinical Immunology, 35(2), 189. Springer New York
Journal of clinical immunology, 35(2), 189-198. Springer New Yorkمصطلحات موضوعية: Male, DOCK8 deficiency, medicine.medical_treatment, Hematopoietic stem cell transplantation, Disease, THERAPY, Cohort Studies, STAT3, Neoplasms, Guanine Nucleotide Exchange Factors, Immunology and Allergy, combined immunodeficiency, Child, Stroke, Immunodeficiency, Incidence, Middle Aged, Phenotype, INFECTIONS, Child, Preschool, Cohort, SURVIVAL, Female, Dock8, Job Syndrome, natural outcome, Cohort study, Adult, medicine.medical_specialty, Adolescent, Immunology, Research Support, Malignancy, WISKOTT-ALDRICH SYNDROME, N.I.H, Young Adult, Internal medicine, medicine, Journal Article, Humans, Lymphocyte Count, Genetic Association Studies, Intramural, HYPER-IGE SYNDROME, business.industry, MUTATIONS, Infant, STEM-CELL TRANSPLANTATION, Immunoglobulin E, medicine.disease, Research Support, N.I.H., Intramural, Lymphocyte Subsets, Surgery, DEDICATOR, Mutation, CYTOKINESIS 8 DEFICIENCY, business, Follow-Up Studies
وصف الملف: image/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf4afc46b4965adc66d9b22cce8a53cdTest
https://dspace.library.uu.nl/handle/1874/332865Test -
6X-linked thrombocytopenia in three males with normal sized platelets due to novel WAS gene mutations
المؤلفون: Elpis, Mantadakis, Julie, Sawalle-Belohradsky, Marianna, Tzanoudaki, Maria, Kanariou, Athanassios, Chatzimichael, Michael H, Albert
المصدر: Pediatric bloodcancer. 61(12)
مصطلحات موضوعية: Blood Platelets, Male, Child, Preschool, Mutation, Humans, Genetic Diseases, X-Linked, Child, Prognosis, Thrombocytopenia, Wiskott-Aldrich Syndrome Protein
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::4ec8ed1d906e9654c9a2b3bebe5249bbTest
https://pubmed.ncbi.nlm.nih.gov/25154619Test -
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المؤلفون: Bodo Grimbacher, Tim Niehues, Julie Sawalle-Belohradsky, Kathrin Siepermann, G Dueckers, Birgit Bayer, Bernd H. Belohradsky, Ellen D. Renner, Benedikt D. Spielberger, Beate Hagl, Katja Anslinger, Cristina Woellner
المصدر: The Journal of allergy and clinical immunology. 130(6)
مصطلحات موضوعية: Male, STAT3 Transcription Factor, Allergy, Genetic counseling, Immunology, DNA Mutational Analysis, Genetic Counseling, Immunoglobulin E, medicine, Immunology and Allergy, Humans, In patient, STAT3, Child, Cells, Cultured, Genes, Dominant, Genetics, biology, business.industry, Infant, medicine.disease, Pedigree, Child, Preschool, Mutation (genetic algorithm), Mutation, biology.protein, Th17 Cells, Female, business, Job Syndrome
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::11b9973d322e05d5abac4b1503bc6de8Test
https://pubmed.ncbi.nlm.nih.gov/22981789Test -
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المؤلفون: Bernd H. Belohradsky, Andreas Wollenberg, Reinhold Cremer, Janine Reichenbach, Julie Sawalle-Belohradsky, Hans D. Ochs, V. Wahn, Angela Roesen-Wolff, Troy R. Torgerson, Ellen D. Renner, Lena F. Schimke, Anita Rack, Manfred Hoenig, Annette Jansson, Nikolaus Rieber, Eberhart Maaß, Reinhard Seger, Harry R. Hill, Michael Borte, Bianca Schaub, Joachim Roesler, Roland Dopfer
المساهمون: University of Zurich
مصطلحات موضوعية: Adult, Male, STAT3 Transcription Factor, Allergy, Adolescent, Immunology, 610 Medicine & health, Immunoglobulin E, Dermatitis, Atopic, Atopy, Immunopathology, Genotype, medicine, Immunology and Allergy, Humans, Child, 2403 Immunology, biology, business.industry, Interleukin-17, Infant, Atopic dermatitis, T-Lymphocytes, Helper-Inducer, Middle Aged, medicine.disease, 10036 Medical Clinic, Child, Preschool, biology.protein, Primary immunodeficiency, 2723 Immunology and Allergy, Female, Dock8, business, Job Syndrome, Gene Deletion
وصف الملف: SchimkeLF,_2010_V.pdf - application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a152ea2458b16123dcd31cf71a9aa1e5Test
https://doi.org/10.5167/uzh-41259Test