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1
المؤلفون: Jennifer W. Leiding, Tiphanie P. Vogel, Valentine G.J. Santarlas, Rahul Mhaskar, Madison R. Smith, Alexandre Carisey, Alexander Vargas-Hernández, Manuel Silva-Carmona, Maximilian Heeg, Anne Rensing-Ehl, Bénédicte Neven, Jérôme Hadjadj, Sophie Hambleton, Timothy Ronan Leahy, Kornvalee Meesilpavikai, Charlotte Cunningham-Rundles, Cullen M. Dutmer, Svetlana O. Sharapova, Mervi Taskinen, Ignatius Chua, Rosie Hague, Christian Klemann, Larysa Kostyuchenko, Tomohiro Morio, Akaluck Thatayatikom, Ahmet Ozen, Anna Scherbina, Cindy S. Bauer, Sarah E. Flanagan, Eleonora Gambineri, Lisa Giovannini-Chami, Jennifer Heimall, Kathleen E. Sullivan, Eric Allenspach, Neil Romberg, Sean G. Deane, Benjamin T. Prince, Melissa J. Rose, John Bohnsack, Talal Mousallem, Rohith Jesudas, Maria Marluce Dos Santos Vilela, Michael O’Sullivan, Jana Pachlopnik Schmid, Štěpánka Průhová, Adam Klocperk, Matthew Rees, Helen Su, Sami Bahna, Safa Baris, Lisa M. Bartnikas, Amy Chang Berger, Tracy A. Briggs, Shannon Brothers, Vanessa Bundy, Alice Y. Chan, Shanmuganathan Chandrakasan, Mette Christiansen, Theresa Cole, Matthew C. Cook, Mukesh M. Desai, Ute Fischer, David A. Fulcher, Silvanna Gallo, Amelie Gauthier, Andrew R. Gennery, José Gonçalo Marques, Frédéric Gottrand, Bodo Grimbacher, Eyal Grunebaum, Emma Haapaniemi, Sari Hämäläinen, Kaarina Heiskanen, Tarja Heiskanen-Kosma, Hal M. Hoffman, Luis Ignacio Gonzalez-Granado, Anthony L. Guerrerio, Leena Kainulainen, Ashish Kumar, Monica G. Lawrence, Carina Levin, Timi Martelius, Olaf Neth, Peter Olbrich, Alejandro Palma, Niraj C. Patel, Tamara Pozos, Kahn Preece, Saúl Oswaldo Lugo Reyes, Mark A. Russell, Yael Schejter, Christine Seroogy, Jan Sinclair, Effie Skevofilax, Daniel Suan, Daniel Suez, Paul Szabolcs, Helena Velasco, Klaus Warnatz, Kelly Walkovich, Austen Worth, Mikko R.J. Seppänen, Troy R. Torgerson, Georgios Sogkas, Stephan Ehl, Stuart G. Tangye, Megan A. Cooper, Joshua D. Milner, Lisa R. Forbes Satter, Svetlana Aleshkevich, Luis M. Allende, T. Prescott Atkinson, Faranaz Atschekzei, Sezin Aydemir, Utku Aygunes, Vincent Barlogis, Ulrich Baumann, John Belko, Liliana Bezrodnik, Ariane Biebl, Lori Broderick, Nancy J. Bunin, Maria Soledad Caldirola, Martin Castelle, Fatih Celmeli, Louis-Marie Charbonnier, Talal A. Chatila, Deepak Chellapandian, Haluk Cokugras, Niall Conlon, Fionnuala Cox, Etienne Crickx, Buket Dalgic, Virgil ASH Dalm, Silvia Danielian, Nerea Dominguez-Pinilla, Tal Dujovny, Mikael Ebbo, Ahmet Eken, Brittany Esty, Alexandre Fabre, Alain Fischer, Mark Hannibal, Laura Huppert, Marc D. Ikeda, Stephen Jolles, Kent W. Jolly, Neil Jones, Maria Kanariou, Elif Karakoc-Aydiner, Theoni Karamantziani, Charikleia Kelaidi, Mary Keogan, Ayşenur Pac Kisaarslan, Ayca Kiykim, Kosmas Kotsonis, Natalia Kuzmenko, Sylvie Leroy, Dimitra Lianou, Hilary Longhurst, Myriam Ricarda Lorenz, Patrick Maffucci, Ania Manson, Sarah Marchal, Marion Malphettes, Lia Furlaneto Marega, Andrea A. Mauracher, Holly Miller, Joy Mombourquette, Noel G. Morgan, Anna Mukhina, Aladjidi Nathalie, Brigitte Nelken, David Nolan, Anna-Carin Norlin, Matias Oleastro, Alper Ozcan, Marlene Pasquet, José Roberto Pegler, Capucine Picard, Sophia Polychronopoulou, Pierre Quartier, Juan Francisco Quesada, Jan Ramakers, Katrina L. Randall, V. Koneti Rao, Allison Remiker, Geraldine Resin, Peter Richmond, Frederic Rieux-Laucat, Yulia Rodina, Pierre Rohrlich, Johnathan Sachs, Inga Sakovich, Christopher Santarlas, Sinan Sari, Gregory Sawicki, Uwe Schauer, Selma C. Scheffler Mendoza, Oksana Schvetz, Reinhold Ernst Schmidt, Klaus Schwarz, Anna Sediva, Kyle Sinclair, Mary Slatter, John Sleasman, Katerina Stergiou, Narissara Suratannon, Kay Tanita, Grace Thompson, Stephen Travis, Timothy Trojan, Maria Tsinti, Ekrem Unal, Luciano Urdinez, Felisa Vazquez-Gomez, Mariana Villa, Michael Weinrich, Mitchell J. Weiss, Benjamin Wright, Ebru Yilmaz, Radana Zachova, Yu Zhang
المساهمون: Internal Medicine, Immunology
المصدر: Journal of Allergy and Clinical Immunology, 151(4), 1081-1095. Mosby Inc.
مصطلحات موضوعية: SDG 3 - Good Health and Well-being, Immunology, Immunology and Allergy
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2
المؤلفون: Tom Le Voyer, Adrian Gervais, Jérémie Rosain, Audrey Parent, Axel Cederholm, Darawan Rinchai, Lucy Bizien, Gonca Hancioglu, Quentin Philippot, Mame Sokhna Gueye, Majistor Raj Luxman, Maglorius Renkilaraj, Masato Ogishi, Camille Soudée, Mélanie Migaud, Flore Rozenberg, Mana Momenilandi, Quentin Riller, Luisa Imberti, Ottavia Delmonte, Gabriele Müller, Bärbel Keller, Julio Orrego, William Alexander Gallego, Tamar Rubin, Melike Emiroglu, Nima Parvaneh, Daniel Eriksson, Maribel Aranda-Guillen, David I Berrios, Linda Vong, Connie H Katelaris, Peter Mustillo, Johannes Rädler, Jonathan Bohlen, Jale Bengi Celik, Camila Astudillo, Sarah Winter, Audrey Guichard, Vivien Béziat, Jacinta Bustamante, Qiang Pan-Hammarström, Yu Zhang, Lindsey B Rosen, Steve M Holland, Heather Kenney, Kaan Boztuğ, Nizar Mahlaoui, Sylvain Latour, Roshini Abraham, Vassilios Lougaris, Fabian Hauck, Anna Sediva, Faranaz Atschekzei, M Cecilia Poli, Mary A Slatter, Boaz Palterer, Michael D Keller, Alberto Pinzon-Charry, Anna Sullivan, Luke Droney, Daniel Suan, Nathalie Aladjidi, Miguel Hie, Estibaliz Lazaro, Jose Franco, Sevgi Keles, Marion Malphette, Marlene Pasquet, Maria Elena Maccari, Andrea Meinhardt, Aydan Ikinciogullari, Mohammad Shahrooei, Fatih Celmeli, Patrick Frosk, Christopher C Goodnow, Paul E Gray, Alexandre Belot, Hye Sun Kuehn, Sergio D Rosenzweig, Francesco Licciardi, Amélie Servettaz, Vincent Barlogis, Guillaume Le Guenno, Vera-Maria Herrmann, Taco Kuijpers, Grégoire Ducoux, Françoise Sarrot-Reynauld, Catharina Schuetz, Charlotte Cunningham-Rundles, Frédéric Rieux-Laucat, Stuart G Tangye, Cristina Sobacchi, Rainer Doffinger, Klaus Warnatz, Bodo Grimbacher, Claire Fieschi, Laureline Berteloot, Vanessa Bryant, Sophie Trouillet Assant, Luigi D Notarangelo, Helen Su, Benedicte Neven, Laurent Abel, Qian Zhang, Bertrand Boisson, Aurélie Cobat, Emmanuelle Jouanguy, Olle Kampe, Paul Bastard, Chaim Roifman, Nils Landegren, Mark S Anderson, Jean-Laurent Casanova, Anne Puel
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3
المؤلفون: Mehmet C. Catak, Bengu Akcam, Sevgi Bilgic Eltan, Royala Babayeva, Ibrahim S. Karakus, Gamze Akgun, Dilek Baser, Alper Bulutoglu, Feyza Bayram, Nurhan Kasap, Ayca Kiykim, Gonca Hancioglu, Sefika I. Kokcu Karadag, Yasemin kendir Demirkol, Selime Ozen, Sukru Cekic, Dilek Ozcan, Neslihan Edeer Karaca, Ayse S. Sasihuseyinoglu, Murat Cansever, Esra Ozek Yucel, Zeynep Tamay, Derya U. Altintas, Cigdem Aydogmus, Fatih Celmeli, Haluk Cokugras, Nesrin Gulez, Ferah Genel, Ayse Metin, Sukru N. Guner, Necil Kutukculer, Sevgi Keles, Ismail Reisli, Sara S. Kilic, Alisan Yildiran, Elif Karakoc‐Aydiner, Bernice Lo, Ahmet Ozen, Safa Baris
المساهمون: Catak M. C., Akcam B., Bilgic Eltan S., Babayeva R., Karakus I. S., Akgun G., Baser D., Bulutoglu A., Bayram F., Kasap N., et al.
مصطلحات موضوعية: Lipopolysaccharides, inborn errors of immunity, ENDOCYTOSIS, CTLA- 4, Immunology, Life Sciences (LIFE), PHENOTYPES, Sağlık Bilimleri, Clinical Medicine (MED), DISEASE, DEMETHYLATION, Genel İmmünoloji ve Mikrobiyoloji, Abatacept, Yaşam Bilimleri, Health Sciences, ALERJİ, Humans, Immunology and Allergy, CTLA-4 Antigen, Klinik Tıp (MED), REGULATORY T-CELLS, Adaptor Proteins, Signal Transducing, IMMUNE DYSREGULATION, Klinik Tıp, İmmünoloji, General Immunology and Microbiology, MUTATIONS, Temel Bilimler, Life Sciences, Forkhead Transcription Factors, CLINICAL MEDICINE, GENE, Tıp, FAMILY, ALLERGY, Treg, Yaşam Bilimleri (LIFE), Medicine, T follicular helper cells, CTLA-4, İmmünoloji ve Alerji, LRBA, Natural Sciences
وصف الملف: application/pdf
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المؤلفون: Ayca Aykut, Asude Durmaz, Neslihan Karaca, Nesrin Gulez, Ferah Genel, Fatih Celmeli, Gulyuz Ozturk, Didem Atay, Cigdem Aydogmus, Ayca Kiykim, Guzide Aksu, Necil Kutukculer
المصدر: Scandinavian Journal of Immunology. 95
مصطلحات موضوعية: Killer Cells, Natural, Turkey, Mutation, Immunology, High-Throughput Nucleotide Sequencing, Humans, next-generation sequencing, Severe Combined Immunodeficiency, General Medicine, novel mutation, severe combined immunodeficiencies
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5Academic Journal
المؤلفون: Ellen Schatorjé, Mikko Seppänen, Michael Browning, Megan Morsheimer, Stefanie Henriet, João Farela Neves, Donald Cuong Vinh, Laia Alsina, Anete Grumach, Pere Soler-Palacin, Thomas Boyce, Fatih Celmeli, Ekaterini Goudouris, Grant Hayman, Richard Herriot, Elisabeth Förster-Waldl, Markus Seidel, Annet Simons, Esther de Vries
مصطلحات موضوعية: Uncategorized, IR content
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6
المؤلفون: Peter Lunt, Mary Buchta, Laura Gámez-Díaz, Roya Sherkat, Pere Soler-Palacín, Desa Lilic, Christoph Klein, Turkan Patiroglu, Fulya Bektas Kut, Natalie Frede, Sara Sebnem Kilic, Katrin Hübscher, T. Prescott Atkinson, Jessica Rojas-Restrepo, Zahra Chavoshzadeh, Zineb Jouhadi, Ekrem Unal, Ömür Ardenyz, Moudjahed Saleh Al-Ddafari, Bodo Grimbacher, Niten Makwana, Fatih Celmeli, Nermeen Galal, Horst von Bernuth, Mehdi Adeli, Rainer Doffinger, Ilija Kirovski, Anne-Sophie Korganow, Margo L. Whiteford, Ayşe Akman Karakaş, Michele Proietti, Shiva Saghafi, V. Wahn, Andrés Caballero Garcia de Oteyza, Helen Rees, Robin Kobbe, Tuba Turul Özgür, Ana Berta Sousa, Juan Carlos Aldave-Becerra, Ayse Metin, Suranjith L. Seneviratne
المصدر: Journal of Clinical Immunology
مصطلحات موضوعية: Male, Eczema, Cohort Studies, Chronic mucocutaneous candidiasis, Medical microbiology, Extended Clinical Phenotype, Immunology and Allergy, Eosinophilia, Sciences du Vivant [q-bio]/Immunologie, Child, Targeted panel sequencing, Primary immunodeficiency, Aire Gene, Candidiasis, Chronic Mucocutaneous, Middle Aged, Hyper-IgE syndrome, Key Findings, Job Syndrome, Child, Preschool, Cohort, Of-Function Mutations, Deficiency, Original Article, Female, medicine.symptom, Dock8, Adult, medicine.medical_specialty, Adolescent, Combined Immunodeficiency, Immunology, Infections, Homozygous Mutations, Young Adult, medicine, Genetics, Humans, business.industry, Infant, Stat1 Mutations, Immunoglobulin E, medicine.disease, Dermatology, Pneumonia, Mutation, Next-generation sequencing, Impair, business
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7
المؤلفون: Capucine Picard, Joëlle Khourieh, Jane Peake, Antoine Guérin, Bertrand Boisson, Aziz Bousfiha, Jamila El Baghdadi, David Hum, Takaki Asano, Jean-Laurent Casanova, Andrew Williams, Simon J. Pelham, Stéphanie Boisson-Dupuis, Peng Zhang, Maya Chrabieh, Luke Droney, Wei-Te Lei, Ilham Fadil, Ji Eun Han, András N Spaan, Qian Zhang, Nevin Hatipoğlu, Franck Rapaport, Anne Puel, Tanwir Habib, Nico Marr, Fatih Celmeli, Vivien Béziat, Joseph Mackie, Biman Saikia, Stuart G. Tangye, Laurent Abel, Tayfun Ozcelik, Juan Li, Sudhir Gupta, Luckshman Ganeshanandan
المساهمون: Özçelik, Tayfun
المصدر: The Journal of Experimental Medicine
مصطلحات موضوعية: Male, Infectious disease and host defense, Dominant negative, Innate immunity and inflammation, 0302 clinical medicine, Immunology and Allergy, 10. No inequality, STAT3, Child, Frameshift Mutation, Dominance (genetics), Genes, Dominant, Translation reinitiation, Genetics, 0303 health sciences, education.field_of_study, Middle Aged, 3. Good health, Pedigree, Codon, Nonsense, 030220 oncology & carcinogenesis, Child, Preschool, Autosomal dominant hyper-IgE syndrome, Female, Haploinsufficiency, Job Syndrome, Gene isoform, Adult, STAT3 Transcription Factor, Adolescent, Immunology, Population, Innate Immunity and Inflammation, Biology, Article, Infectious Disease and Host Defense, Evolution, Molecular, 03 medical and health sciences, Immunodeficiency, Humans, Family, RNA, Messenger, education, Alleles, 030304 developmental biology, Human disease genetics, Infant, Newborn, Infant, Alternative Splicing, Genetics, Population, HEK293 Cells, Protein Biosynthesis, Mutation, biology.protein, Human Disease Genetics
وصف الملف: application/pdf
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8
المؤلفون: Natalie Frede, Bodo Grimbacher, Nefise Oztoprak, Derya Seyman, Doga Turkkahraman, Sadi Köksoy, Esvet Mutlu, Fatih Celmeli
المصدر: Pediatric Infectious Disease Journal. 35:428-431
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Microbiology (medical), Antifungal Agents, 030106 microbiology, Granulocyte, 03 medical and health sciences, Meningoencephalitis, Recurrence, Immunity, Candida albicans, Granulocyte Colony-Stimulating Factor, medicine, Humans, Candidiasis, Invasive, Chronic mucocutaneous candidiasis, Antibodies, Fungal, biology, business.industry, Homozygote, Interleukin-17, medicine.disease, biology.organism_classification, Lymphocyte Subsets, Granulocyte colony-stimulating factor, CARD Signaling Adaptor Proteins, Treatment Outcome, 030104 developmental biology, Infectious Diseases, medicine.anatomical_structure, Mutation, Pediatrics, Perinatology and Child Health, Immunology, Primary immunodeficiency, Interleukin 17, business
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9
المؤلفون: Atiye Nil Palancı, Fatih Celmeli, Murat Şahin, Eylem Ulaş Saz, Doga Turkkahraman
المساهمون: Ege Üniversitesi
المصدر: The Journal of Pediatric Research. 2:105-108
مصطلحات موضوعية: medicine.medical_specialty, children, business.industry, Medicine, Congenital diaphragmatic hernia, Late onset, business, medicine.disease, congenital diaphragmatic hernia, Surgery
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10
المؤلفون: Kai Kisand, Mesut Parlak, Abdullah Kocabas, Fatih Celmeli, Serdar Ceylaner, Ishak A Isik, Doga Turkkahraman
المصدر: Journal of Pediatric Endocrinology and Metabolism. 30
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, animal structures, Adolescent, Endocrinology, Diabetes and Metabolism, media_common.quotation_subject, Autoimmune hepatitis, Disease, Chronic liver disease, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, medicine, Humans, Girl, Polyendocrinopathies, Autoimmune, Hepatopulmonary syndrome, media_common, Cyanosis, business.industry, Homozygote, Autoimmune polyendocrinopathy, Prognosis, Autoimmune regulator, medicine.disease, Dermatology, 030104 developmental biology, 030220 oncology & carcinogenesis, Mutation, Pediatrics, Perinatology and Child Health, Primary immunodeficiency, Female, business, Biomarkers, Hepatopulmonary Syndrome, Transcription Factors
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11
المؤلفون: Nobuyuki Hyakuna, Saleh Al Muhsen, Takaki Asano, Caner Aytekin, Didier Bronnimann, Yuval Itan, Erika Della Mina, Figen Dogu, Chittibabu Vatte, Laurent Abel, Amein Al Ali, Caini Liu, Vivien Béziat, Xiaoxia Li, Julie Toubiana, Marie Ferneiny, Romain Lévy, Masao Kobayashi, Anne Puel, Ekrem Unal, Suzan A AlKhater, Cyril Cyrus, Louis Yi Ann Chai, Fatih Celmeli, Fabian Hauck, Satoshi Okada, Stéphanie Boisson-Dupuis, Osamu Ohara, Turkan Patiroglu, Jacinta Bustamante, Mélanie Migaud, Kunihiko Moriya, Matías Oleastro, Jean-Laurent Casanova, Aydan Ikinciogullari, Florian Gothe, Natalia Tahuil, Yildiz Camcioglu, Christoph Klein, Aicha Salhi, Ling Yun, Serdar Nepesov
المصدر: Proceedings of the National Academy of Sciences of the United States of America, vol 113, iss 51
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madridمصطلحات موضوعية: Male, 0301 basic medicine, T-Lymphocytes, 0302 clinical medicine, Receptors, 2.1 Biological and endogenous factors, Missense mutation, Aetiology, Chronic mucocutaneous candidiasis, Child, Receptor, Immunodeficiency, Skin, Candida, Pediatric, Receptors, Interleukin-17, Multidisciplinary, Interleukin-17, Homozygote, Candidiasis, Bacterial Infections, Pedigree, Transmembrane domain, Infectious Diseases, PNAS Plus, Child, Preschool, Female, Infection, Mucocutaneous zone, Genes, Recessive, Biology, Immunophenotyping, Open Reading Frames, 03 medical and health sciences, Rare Diseases, Clinical Research, Genetics, medicine, Humans, Recessive, Allele, Preschool, Gene, Alleles, Family Health, Cell Membrane, Infant, Newborn, Infant, Fibroblasts, Newborn, medicine.disease, HEK293 Cells, Emerging Infectious Diseases, Good Health and Well Being, 030104 developmental biology, Mycoses, Genes, Mutation, Immunology, immunodeficiency, Genome-Wide Association Study, 030215 immunology
وصف الملف: application/pdf
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المؤلفون: Adil Boz, Reha Artan, Funda Aydn, Fatih Celmeli, Firat Gungor, A. Boz
المصدر: Nuclear Medicine Communications. 30:802-806
مصطلحات موضوعية: Male, medicine.medical_specialty, Adolescent, Positive correlation, Scintigraphy, Sensitivity and Specificity, Gastroenterology, Young Adult, Internal medicine, medicine, Humans, Radiology, Nuclear Medicine and imaging, Respiratory system, Child, Radionuclide Imaging, medicine.diagnostic_test, business.industry, fungi, Symptom severity, Reflux, Reproducibility of Results, Mean age, General Medicine, Chronic cough, Cough, Gastroesophageal Reflux, Etiology, Female, medicine.symptom, business
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14
المؤلفون: M de Boer, Ahmet Metin, Ozden Sanal, Ilhan Tezcan, Dirk Roos, Tuba Turul Ozgur, K. van Leeuwen, Mustafa Yavuz Köker, Fatih Celmeli
المساهمون: Landsteiner Laboratory
المصدر: European journal of clinical investigation, 39(4), 311-319. Wiley-Blackwell
مصطلحات موضوعية: Male, Adolescent, Turkey, DNA Mutational Analysis, Clinical Biochemistry, Nonsense mutation, Genes, Recessive, Consanguinity, Biology, Granulomatous Disease, Chronic, medicine.disease_cause, Biochemistry, Frameshift mutation, Exon, Chronic granulomatous disease, medicine, Humans, Missense mutation, Child, Genetics, Mutation, Autosome, Infant, NADPH Oxidases, General Medicine, medicine.disease, Pedigree, Child, Preschool, Female
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15
المؤلفون: Ahmet Gokhan Arslan, Fatih Celmeli, Aykut Cilli, A. Boz, Candan Öğüş, Tülay Özdemir
المصدر: Pediatric Pulmonology. 44:86-89
مصطلحات موضوعية: Pulmonary and Respiratory Medicine, Allergy, Tuberculosis, business.industry, Aspergillosis, Allergic Bronchopulmonary, Respiratory disease, medicine.disease, Aspergillosis, Cystic fibrosis, Radiography, Pediatrics, Perinatology and Child Health, Immunology, medicine, Humans, Female, Allergic bronchopulmonary aspergillosis, Child, business, Tuberculosis, Pulmonary, Mycosis, Asthma
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16
المؤلفون: Pere Soler-Palacín, João Farela Neves, Markus G. Seidel, Grant Hayman, Richard Herriot, Anete Sevciovic Grumach, Ekaterini Goudouris, Annet Simons, Stefanie S. V. Henriet, E. J. H. Schatorje, Elisabeth Förster-Waldl, Michael J. Browning, Donald C. Vinh, Michiel van der Flier, Megan Morsheimer, Esther de Vries, Laia Alsina, Mikko Seppänen, Thomas G. Boyce, Fatih Celmeli
المساهمون: Clinicum, Children's Hospital, HUS Children and Adolescents, Tranzo, Scientific center for care and wellbeing, Huisarts & Ziekenhuis
المصدر: ORPHANET JOURNAL OF RARE DISEASES
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Orphanet Journal of Rare Diseases, 11, 110
Orphanet Journal of Rare Diseases
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Orphanet Journal of Rare Diseases, 11(1):110. BioMed Central
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP
Orphanet Journal of Rare Diseases, 11. BioMed Central
Orphanet Journal of Rare Diseases, 11, 1, pp. 110مصطلحات موضوعية: 0301 basic medicine, Male, ANTIBODY DEFICIENCY, lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4], CHILDREN, Chromosomal aberration, IGA DEFICIENCY, JACOBSEN-SYNDROME, Cancer development and immune defence Radboud Institute for Health Sciences [Radboudumc 2], Surveys and Questionnaires, HDE PED, Genetics(clinical), Pharmacology (medical), Young adult, Antibiotic prophylaxis, IgG Deficiency, Child, Genetics (clinical), Immunodeficiency, Medicine(all), Primary immunodeficiency, Respiratory tract infections, TRISOMY 10P, General Medicine, Middle Aged, 3. Good health, Child, Preschool, Female, Recurrent infections, Adult, medicine.medical_specialty, Adolescent, Immunology, COMMON VARIABLE IMMUNODEFICIENCY, PATIENT, RING CHROMOSOME-18, 03 medical and health sciences, Young Adult, Internal medicine, Intellectual Disability, Genetics, Immunology, Chromosomal aberration, Primary immunodeficiency, Mental retardation, Recurrent infections, Journal Article, medicine, Genetics, Humans, Aged, Retrospective Studies, Chromosome Aberrations, business.industry, Common variable immunodeficiency, Research, DELETION SYNDROME, Immunologic Deficiency Syndromes, Infant, Retrospective cohort study, Mental retardation, medicine.disease, REFERENCE VALUES, 030104 developmental biology, IgG deficiency, 3111 Biomedicine, business
وصف الملف: application/pdf; image/pdf
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المؤلفون: Aslınur Sürer Adanir, Doga Turkkahraman, Gamze Çelmeli, Fatih Celmeli
المصدر: Volume: 8, Issue: 4
Türkiye Çocuk Hastalıkları Dergisiمصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Leukotriene receptor, business.industry, Child,Suicide,Leukotriene receptor antagonists,Montelukast,Neuropsychiatry,Adverse effect, medicine.disease, Complete resolution, respiratory tract diseases, Increased risk, Suicide behavior, immune system diseases, Çocuk,İntihar,Lökotrien reseptör antagonistleri,Montelukast,Nöropsikiyatri,Yan etki, medicine, business, Montelukast, hormones, hormone substitutes, and hormone antagonists, medicine.drug, Asthma
وصف الملف: application/pdf
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المؤلفون: Yakup Canitez, Nail Yologlu, Fadıl Öztürk, Mehmet Kilic, Ozge Soyer, Ömer Cevit, Hasan Yuksel, Ayşen Bingöl, Suna Asilsoy, Mehtap Kiliç, Ferhat Çatal, Mehtap Yazicioglu, Semanur Kuyucu, Fatih Celmeli, Burcin Nalbantoglu, Dost Zeyrek, Demet Can, Gulbin Bingol Karakoc, Cem Hasan Razi, Suleyman Tolga Yavuz, Bulent Enis Sekerel, Ayşe Yenigün, Belgin Usta Güç, Ozlem Keskin
مصطلحات موضوعية: Budesonide, Pediatrics, medicine.medical_specialty, business.industry, Severe asthma, Immunology, Asthma symptoms, humanities, Fluticasone propionate, Asthmatic children, Multicenter study, medicine, Immunology and Allergy, business, health care economics and organizations, medicine.drug
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19
المؤلفون: Tamer Çelik, Ümit Çelik, Servet Ozkiraz, Fatih Celmeli
المصدر: Journal of Pediatric Infection. 6:30-31
مصطلحات موضوعية: Anisocoria, Pediatrics, medicine.medical_specialty, genetic structures, business.industry, Intracranial Neoplasm, Ipratropium bromide, medicine.disease, Pupil, Infectious Diseases, Hematoma, Aneurysm, Anesthesia, Pediatrics, Perinatology and Child Health, Ipratropium, Medicine, sense organs, medicine.symptom, business, medicine.drug
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20
المؤلفون: Vedat Uygun, Doga Turkkahraman, Akif Yeşilipek, Giancarlo la Marca, Michael S. Hershfield, Fatih Celmeli
المصدر: Università degli studi di Firenze-IRIS
مصطلحات موضوعية: Purine-Pyrimidine Metabolism, Inborn Errors, Transplantation Conditioning, Adolescent, Primary Immunodeficiency Diseases, medicine.medical_treatment, Receptors, Antigen, T-Cell, Immunoglobulins, Late onset, Hematopoietic stem cell transplantation, Immune system, medicine, Humans, heterocyclic compounds, Respiratory Tract Infections, Immunodeficiency, Paraplegia, Peripheral Blood Stem Cell Transplantation, Transplantation, business.industry, Hematopoietic Stem Cell Transplantation, Immunologic Deficiency Syndromes, medicine.disease, Regimen, Purine-Nucleoside Phosphorylase, Reduced Intensity Conditioning, Mutation, Pediatrics, Perinatology and Child Health, Immunology, Purine nucleoside phosphorylase deficiency, Female, business