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The New England journal of medicine, ISSN 0028-4793, 02/2015, Volume 372, Issue 6, pp. 528 - 536
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Brain Ischemia - complications | Neuroprotective Agents - therapeutic use | Acute Disease | Double-Blind Method | Time-to-Treatment | Humans | Middle Aged | Male | Magnesium Sulfate - therapeutic use | Stroke - drug therapy | Magnesium Sulfate - adverse effects | Stroke - etiology | Hemorrhage - etiology | Female | Aged | Infusions, Intravenous | Neuroprotective Agents - adverse effects | Stroke - mortality | Emergency Medical Services | Intracranial Hemorrhages - complications | Stroke (Disease) | Magnesium sulfate | Usage | Care and treatment | Hospitals | Analysis | Outcome and process assessment (Health Care) | Management | Risk factors | Neuroprotection | Medical research | Stroke | Intravenous administration | Clinical trials | Preventive medicine | Neuroprotective agents | Hemorrhage | Mimicry | Neurological diseases | Neurology | Ischemia | Magnesium | Index Medicus | Abridged Index Medicus
Journal Article
Nature (London), ISSN 0028-0836, 09/2012, Volume 489, Issue 7414, pp. 57 - 74
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Fundamental and applied biological sciences. Psychology | Classical genetics, quantitative genetics, hybrids | Human | Biological and medical sciences | Genetics of eukaryotes. Biological and molecular evolution | Mammals - genetics | Chromatin - metabolism | Histones - chemistry | Genomics | Humans | Promoter Regions, Genetic - genetics | Encyclopedias as Topic | DNA-Binding Proteins - metabolism | Chromatin Immunoprecipitation | Neoplasms - genetics | Genetic Predisposition to Disease - genetics | Genome-Wide Association Study | Chromosomes, Human - genetics | Molecular Sequence Annotation | Exons - genetics | DNA Methylation - genetics | Binding Sites - genetics | Chromosomes, Human - metabolism | Genome, Human - genetics | Regulatory Sequences, Nucleic Acid - genetics | DNA - genetics | DNA Footprinting | Proteins - genetics | Transcription Factors - metabolism | Deoxyribonuclease I - metabolism | Animals | Sequence Analysis, RNA | Alleles | Polymorphism, Single Nucleotide - genetics | Genetic Variation - genetics | Histones - metabolism | Transcription, Genetic - genetics | Chromatin - genetics | Genetic research | Genetic transcription | Research | Human genome | Proteins | Studies | Genes | DNA methylation | Genetics | Deoxyribonucleic acid--DNA | Index Medicus | Genètica | Genòmica | Genoma humà | Life Sciences
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The extended clinical phenotype of 64 patients with dedicator of cytokinesis 8 deficiency
Journal of allergy and clinical immunology, ISSN 0091-6749, 2015, Volume 136, Issue 2, pp. 402 - 412
Allergy and Immunology | Primary combined immunodeficiency | autosomal recessive hyper-IgE syndrome | signal transducer and activator of transcription 3 | Molluscum contagiosum | hyper-IgE syndrome | dedicator of cytokinesis 8 | Allergy | Immunology | Life Sciences & Biomedicine | Science & Technology | Job Syndrome - genetics | Job Syndrome - mortality | Humans | Middle Aged | Child, Preschool | Male | Support Vector Machine | Virus Diseases - complications | Eosinophils - immunology | Immunoglobulin E - blood | CD4-Positive T-Lymphocytes - immunology | Bacterial Infections - genetics | Eosinophils - pathology | Virus Diseases - genetics | Child | Guanine Nucleotide Exchange Factors - deficiency | STAT3 Transcription Factor - genetics | Skin Diseases - mortality | Immunoglobulin M - genetics | Guanine Nucleotide Exchange Factors - genetics | Virus Diseases - immunology | Skin Diseases - immunology | Antigens, Viral - immunology | Phenotype | Skin Diseases - complications | Job Syndrome - complications | Adolescent | Survival Analysis | Virus Diseases - mortality | Mutation | STAT3 Transcription Factor - immunology | CD8-Positive T-Lymphocytes - immunology | Bacterial Infections - mortality | Job Syndrome - immunology | CD8-Positive T-Lymphocytes - pathology | Skin Diseases - genetics | Antigens, Bacterial - immunology | Infant | Antigens, Bacterial - blood | CD4-Positive T-Lymphocytes - pathology | Antigens, Viral - blood | Bacterial Infections - complications | Immunoglobulin E - genetics | Bacterial Infections - immunology | Adult | Female | Immunoglobulin M - blood | Guanine Nucleotide Exchange Factors - immunology | Lymphocyte Count | Genotype & phenotype | Immunoglobulins | Laboratories | Lymphocytes | Families & family life | Lymphoma | Viral infections | Deoxyribonucleic acid--DNA | Index Medicus | Abridged Index Medicus | Immunoglobulin M | Immunoglobulin E | CD8-Positive T-Lymphocytes | Life Sciences | Antigens, Viral | Bacterial Infections | Job Syndrome | CD4-Positive T-Lymphocytes | Virus Diseases | Skin Diseases | Antigens, Bacterial | Guanine Nucleotide Exchange Factors | STAT3 Transcription Factor | Eosinophils
Journal Article
Journal of allergy and clinical immunology, ISSN 0091-6749, 2010, Volume 125, Issue 2, pp. 424 - 432.e8
Allergy and Immunology | STAT3 mutations | Hyper-IgE syndrome | diagnostic guidelines | T H17 cells | HIES | Job syndrome | Allergy | Immunology | Life Sciences & Biomedicine | Science & Technology | Fundamental and applied biological sciences. Psychology | Fundamental immunology | Immunopathology | Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis | Biological and medical sciences | Medical sciences | Immunodeficiencies. Immunoglobulinopathies | Immunodeficiencies | Job Syndrome - immunology | Job Syndrome - genetics | Enzyme-Linked Immunosorbent Assay | Job Syndrome - diagnosis | Cell Separation | Humans | Middle Aged | Interleukin-17 - immunology | Child, Preschool | Infant | Male | Immunoglobulin E - blood | Young Adult | Flow Cytometry | T-Lymphocytes, Helper-Inducer - immunology | Adolescent | Polymerase Chain Reaction | Adult | Female | Mutation | Child | STAT3 Transcription Factor - genetics | Practice Guidelines as Topic | Medical colleges | Asthma in children | Immunodeficiency | Immunoglobulin E | Bone marrow | Transplantation | Diagnosis | Children | Gene therapy | Health aspects | Allergic reaction | Signal transduction | Cell culture | Genotype & phenotype | Pneumonia | Hypotheses | Fractures | Cytokines | Patients | Age | Deoxyribonucleic acid--DNA | Index Medicus | Abridged Index Medicus | Medicin och hälsovetenskap
Journal Article
American journal of human genetics, ISSN 0002-9297, 06/2012, Volume 90, Issue 6, pp. 986 - 1001
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Immunopathology | Medical genetics | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Immunodeficiencies. Immunoglobulinopathies | Immunodeficiencies | B-Lymphocytes - cytology | Cell Proliferation | Agammaglobulinemia - genetics | Microscopy, Electron, Transmission - methods | Humans | Autoimmunity - genetics | Child, Preschool | Genotype | Immunophenotyping | Male | Chromosome Mapping | Autophagy | Homozygote | Phenotype | Pedigree | Adaptor Proteins, Signal Transducing - genetics | Immunologic Deficiency Syndromes - genetics | Female | Models, Genetic | Mutation | Child | Apoptosis | Genetic Linkage | Autoimmunity | Gene mutations | Genetic susceptibility | Agammaglobulinemia | Causes of | Genetic aspects | Research | Immunoglobulins | Analysis | Immunodeficiency | Genetic research | Mitogens | Genotype & phenotype | Genetic disorders | Autoimmune diseases | Childrens health | Immune system | Index Medicus | Heredity | Hypogammaglobulinemia | Lipopolysaccharides | chromosome 4 | Cell activation | Lymphocytes B | Development | Genotypes | Phagocytosis | Linkage analysis | Medicin och hälsovetenskap
Journal Article