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المؤلفون: Małgorzata Pac, Jelena Rascon, Tatjana Prokofjeva, Irina Kondratenko, László Maródi, Necil Kutukculer, Beáta Tóth, Vera Gulácsy, Tadej Avcin, Liudmyla Chernyshova, Melinda Erdős, Larysa Kostyuchenko, Ewa Bernatowska, Srdjan Pasic, Nicolae Iagaru, Mirjam van der Burg, Anna Shcherbina, Cinzia Mazza, Tomáš Freiberger
المساهمون: Immunology
المصدر: Molecular Immunology, 48(5), 788-792. Elsevier Ltd.
مصطلحات موضوعية: Male, Adolescent, Wiskott–Aldrich syndrome, Genetic counseling, Immunology, Nonsense mutation, macromolecular substances, Gene mutation, Biology, Klinikai orvostudományok, medicine.disease_cause, Actin cytoskeleton organization, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Gene duplication, medicine, Humans, Child, Molecular Biology, 030304 developmental biology, Genetics, 0303 health sciences, Mutation, Wiskott–Aldrich syndrome protein, Infant, Orvostudományok, medicine.disease, Wiskott-Aldrich Syndrome, 3. Good health, Child, Preschool, 030220 oncology & carcinogenesis, biology.protein, Female, Wiskott-Aldrich Syndrome Protein
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::289c9634cae7a00d136a54a66af11c9dTest
https://doi.org/10.1016/j.molimm.2010.11.013Test -
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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: György Fekete, Krisztina Kádár, Mária Katona, Angela Dajnoki, Krisztina Németh, Veronika Müller, Éva Rákóczi, Beáta Tóth, Dániel Bereczki, Sarolta Kárpáti, Rita Széchey, Gábor Rudas, Miklós Garami, Pál Magyar, Attila Kertész, László Maródi, Gergely Bokrétás, Vera Gulácsy, Mohamed Mahdi, Orsolya Fiedler, Edit Varga, Viktor Nagy, Ildikó Vastagh, Annamária Székely, Andrea Ponyi, Sándor Molnár, Csaba Ambrus, Márta Medvecz, Tamás Constantin, Melinda Erdős
المصدر: Orvosi Hetilap. 151:1243-1251
مصطلحات موضوعية: Male, Gynecology, Clinical Trials as Topic, Heterozygote, medicine.medical_specialty, business.industry, Treatment outcome, General Medicine, medicine.disease, Fabry disease, Treatment Outcome, Endocrinology, alpha-Galactosidase, Internal medicine, Fabry Disease, Humans, Medicine, Enzyme Replacement Therapy, Female, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::97961ba4eb94bea0f92b65da36d91ea5Test
https://doi.org/10.1556/oh.2010.28796Test -
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المؤلفون: László Maródi, Vera Gulácsy, Beáta Soltész, Margit Serban, Carmen Petrescu, Mihaela Bataneant, Edit Gyimesi, Beáta Tóth
المصدر: European journal of haematology. 95(1)
مصطلحات موضوعية: Male, Wiskott–Aldrich syndrome, Molecular Sequence Data, Biology, Klinikai orvostudományok, Genome, Polymerase Chain Reaction, Exon, INDEL Mutation, medicine, Humans, Deletion mapping, Indel, Gene, Genetics, Base Sequence, Intron, Infant, Orvostudományok, Hematology, General Medicine, Exons, Sequence Analysis, DNA, medicine.disease, Molecular biology, Introns, Wiskott-Aldrich Syndrome, genomic DNA, Leukocytes, Mononuclear, Wiskott-Aldrich Syndrome Protein
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2997793656442551751eb052b91228e3Test
https://pubmed.ncbi.nlm.nih.gov/25082437Test -
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المؤلفون: László Maródi, Vera Gulácsy
المصدر: Orvosi hetilap. 152(2)
مصطلحات موضوعية: Immunoglobulins, Self Administration, Subcutaneous immunoglobulin, Infusions, Subcutaneous, Immunoglobulin G, Drug Administration Schedule, Hypogammaglobulinemia, hemic and lymphatic diseases, medicine, Humans, Adverse effect, biology, business.industry, Immunologic Deficiency Syndromes, Immunoglobulins, Intravenous, General Medicine, medicine.disease, Immunology, biology.protein, Primary immunodeficiency, Quality of Life, Antibody, Self-administration, business, Anaphylaxis
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b1f60e53f32c32a54b7a59992979ababTest
https://pubmed.ncbi.nlm.nih.gov/21177233Test -
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المؤلفون: László Maródi, Vera Gulácsy
المصدر: Orvosi hetilap. 149(29)
مصطلحات موضوعية: Recurrent infections, Molecular pathology, Wiskott–Aldrich syndrome, business.industry, Eczema, Autoimmunity, General Medicine, medicine.disease_cause, medicine.disease, Thrombocytopenia, Wiskott-Aldrich Syndrome, Diagnosis, Differential, Immunology, medicine, Humans, business, Immunodeficiency disorder, Wiskott-Aldrich Syndrome Protein
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eea42c027341e969f4202a890f39e714Test
https://pubmed.ncbi.nlm.nih.gov/18617469Test -
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المؤلفون: Karl Welte, Vera Gulácsy, Jana Diestelhorst, Liudmyla Chernyshova, I Avedillo Díez, László Maródi, Kaan Boztug, Christoph Klein, Manuela Germeshausen, Matthias Ballmaier
المصدر: Europe PubMed Central
مصطلحات موضوعية: Male, Somatic cell, Wiskott–Aldrich syndrome, Nonsense mutation, macromolecular substances, Biology, Klinikai orvostudományok, medicine.disease_cause, Autoimmunity, Exon, Genetics, medicine, Missense mutation, Humans, Genetics (clinical), Mutation, Mosaicism, Siblings, Orvostudományok, medicine.disease, Wiskott-Aldrich Syndrome, Codon, Nonsense, Child, Preschool, Immunology, Primary immunodeficiency, Wiskott-Aldrich Syndrome Protein
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e4dc0094f0d25d46c89fa156ad065f07Test
https://pubmed.ncbi.nlm.nih.gov/18479478Test