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1دورية أكاديمية
المؤلفون: Ricardo C Ferreira, Qiang Pan-Hammarström, Robert R Graham, Gumersindo Fontán, Annette T Lee, Ward Ortmann, Ning Wang, Elena Urcelay, Miguel Fernández-Arquero, Concepción Núñez, Gudmundur Jorgensen, Björn R Ludviksson, Sinikka Koskinen, Katri Haimila, Leonid Padyukov, Peter K Gregersen, Lennart Hammarström, Timothy W Behrens
المصدر: PLoS Genetics, Vol 8, Iss 1, p e1002476 (2012)
وصف الملف: electronic resource
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2
المؤلفون: Ricardo C. Ferreira, Elena Urcelay, Timothy W. Behrens, Qiang Pan-Hammarström, Bjorn R. Ludviksson, Concepción Núñez, Peter K. Gregersen, Lennart Hammarström, Vesela Gateva, Miguel Fernández-Arquero, Annette Lee, Robert R. Graham, Ward Ortmann, Gumersindo Fontán, Hilary Clark, Katri Haimila, Sinikka Koskinen, Gudmundur H. Jorgensen, Lars Klareskog
المصدر: Nature Genetics. 42:777-780
مصطلحات موضوعية: Risk, Interferon-Induced Helicase, IFIH1, Genetic Linkage, Iceland, Autoimmunity, Genome-wide association study, Validation Studies as Topic, Selective IgA deficiency, Biology, medicine.disease_cause, Autoimmune Diseases, DEAD-box RNA Helicases, 03 medical and health sciences, 0302 clinical medicine, Genetics, medicine, Humans, Genetic Predisposition to Disease, Allele, Alleles, Finland, 030304 developmental biology, Sweden, 0303 health sciences, IgA Deficiency, medicine.disease, 3. Good health, Immunoglobulin A deficiency, Risk variant, Spain, Case-Control Studies, Immunology, Risk allele, Primary immunodeficiency, Genome-Wide Association Study, 030215 immunology
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3
المؤلفون: Rocío Mena de la Cruz, Margarita López-Trascasa, Alberto López-Lera, Gumersindo Fontán, Sofía Garrido
المصدر: Molecular Immunology. 46:2340-2347
مصطلحات موضوعية: Male, Models, Molecular, Genetics, Complement component 5, Heterozygote, Mutation, Neisseria meningitidis, Immunology, Nonsense mutation, Complement C5, Meningitis, Meningococcal, Neisseria meningitidis, Serogroup B, Complement deficiency, C5 Deficiency, Biology, medicine.disease, medicine.disease_cause, Exon, medicine, Humans, Female, Molecular Biology, Immunodeficiency
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4
المؤلفون: Isabel María Ponce-Castro, Margarita López-Trascasa, Gumersindo Fontán, Carolina González-Rubio, Pilar Sánchez-Corral, Eva María Delgado-Cerviño, Cynthia Abarrategui-Garrido
المصدر: Molecular Immunology. 45:2764-2771
مصطلحات موضوعية: Adult, Male, DNA, Complementary, Adolescent, Blotting, Western, DNA Mutational Analysis, Molecular Sequence Data, Immunology, Complement factor I, medicine.disease_cause, White People, Contig Mapping, Exon, medicine, Humans, Missense mutation, Family, Child, Molecular Biology, Gene, Immunodeficiency, Serine protease, Genetics, Mutation, Base Sequence, biology, Genome, Human, medicine.disease, Pedigree, Protein Structure, Tertiary, Complement Factor I, Spain, Child, Preschool, biology.protein, Female, Meningitis
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5
المؤلفون: Alfonso Martínez, Nadia del Pozo, Antonio Ferreira, Miguel Fernández-Arquero, Gumersindo Fontán, Emilio G. de la Concha, Raquel López-Mejías, Concepción Núñez, Elena Urcelay
المصدر: Human Immunology. 69:301-305
مصطلحات موضوعية: Immunology, Single-nucleotide polymorphism, Biology, Selective IgA deficiency, Polymorphism, Single Nucleotide, White People, Gene Frequency, Confidence Intervals, Odds Ratio, medicine, Humans, Immunology and Allergy, Genetic Predisposition to Disease, Allele, Promoter Regions, Genetic, Allele frequency, Genetics, Interleukin-6, Haplotype, IgA Deficiency, Case-control study, General Medicine, Odds ratio, Transmission disequilibrium test, medicine.disease, Haplotypes, Spain, Case-Control Studies
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6
المؤلفون: S Bolland, Gumersindo Fontán, Eduardo López-Granados, Juan Bravo, A Ferreira, Juan Rivera, R Pérez de Diego, M C García Rodríguez
المصدر: Clinical and Experimental Immunology. 152:33-38
مصطلحات موضوعية: Male, Translational Studies, Immunology, B-cell receptor, Mutant, Mutation, Missense, Transfection, medicine.disease_cause, Agammaglobulinemia, immune system diseases, hemic and lymphatic diseases, Calcium flux, Agammaglobulinaemia Tyrosine Kinase, Tumor Cells, Cultured, medicine, Animals, Humans, Immunology and Allergy, Bruton's tyrosine kinase, Child, B cell, Mutation, biology, Infant, Genetic Diseases, X-Linked, Protein-Tyrosine Kinases, medicine.anatomical_structure, Immunoglobulin M, Child, Preschool, Mutagenesis, Site-Directed, biology.protein, Calcium, Chickens, Tyrosine kinase
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7
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8
المؤلفون: Eduardo López-Granados, Gumersindo Fontán, Maria Cruz García-Rodríguez, Antonio Ferreira, Maite Pozo, Prado Sabina, Rebeca Pérez de Diego, Cristina de Amunátegui Rodríguez, Susana Alemany
المصدر: Journal of Allergy and Clinical Immunology. 117:1462-1469
مصطلحات موضوعية: Lipopolysaccharides, Myeloid, Immunology, B-cell receptor, X-linked agammaglobulinemia, Biology, Monocytes, Mice, Agammaglobulinemia, immune system diseases, hemic and lymphatic diseases, Agammaglobulinaemia Tyrosine Kinase, medicine, Animals, Humans, Point Mutation, Immunology and Allergy, Bruton's tyrosine kinase, Cells, Cultured, Chromosomes, Human, X, Monocyte, Infant, Dendritic cell, Protein-Tyrosine Kinases, medicine.disease, Respiratory burst, Disease Models, Animal, medicine.anatomical_structure, Child, Preschool, biology.protein, Cancer research, Mitogen-Activated Protein Kinases, Tyrosine kinase
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9
المصدر: Anales de Pediatría Continuada. 4:111-114
مصطلحات موضوعية: business.industry, Pediatrics, Perinatology and Child Health, Medicine, business
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10
المصدر: Anales de Pediatría Continuada. 4:41-45
مصطلحات موضوعية: 03 medical and health sciences, 0302 clinical medicine, business.industry, 030225 pediatrics, Pediatrics, Perinatology and Child Health, Medicine, business, 030215 immunology