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Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2013, Volume 131, Issue 6, pp. 1594 - 1603.e9
Background Primary immunodeficiencies are a rare group of inborn diseases characterized by a broad clinical and genetic heterogeneity. Substantial advances in... 
Allergy and Immunology | thymus | T-cell immunodeficiency | mucosal-associated invariant T cell | severe combined immune deficiency | EBV-associated B-cell lymphoproliferation | invariant natural killer T cell | Primary immunodeficiency | HOMEOSTASIS | WISKOTT-ALDRICH-SYNDROME | THYMIC EGRESS | SYNDROME PROTEIN | IMMUNOLOGY | MATURATION | T-LYMPHOCYTE | ALLERGY | KINASE ITK | INKT CELL | GENERATION | MUTATIONS | Immunologic Deficiency Syndromes - pathology | Humans | Infant | Male | Exome | Base Sequence | B-Lymphocytes - virology | Female | Immunologic Deficiency Syndromes - immunology | Child | Gene Order | Microfilament Proteins - genetics | B-Lymphocytes - metabolism | Siblings | Amino Acid Sequence | Microfilament Proteins - chemistry | Gene Expression | Microfilament Proteins - deficiency | Protein Structure, Secondary | Lymphoproliferative Disorders - virology | Herpesvirus 4, Human - immunology | Models, Molecular | Lymphoproliferative Disorders - genetics | Lymphoproliferative Disorders - pathology | Sequence Alignment | Pedigree | Immunologic Deficiency Syndromes - genetics | Consanguinity | Mutation | T cells | Genomics | Risk factors | Immunodeficiency | Antigens | Genealogy | Genes | Families & family life | Kinases | Patients | Streptococcus infections | Proteins | Chemotherapy | Parents & parenting | Lymphocytes | Tetanus | Genetic testing | Potassium | Age | Deoxyribonucleic acid--DNA
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2015, Volume 136, Issue 6, pp. 1619 - 1626.e5
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2014, Volume 134, Issue 6, pp. 1354 - 1364.e6
Journal Article
Lancet Neurology, The, ISSN 1474-4422, 2015, Volume 14, Issue 12, pp. 1182 - 1195
Journal Article
by Assimes, Themistocles L., MD, PhD and Hólm, Hilma, MD and Kathiresan, Sekar, MD and Reilly, Muredach P., MB and Thorleifsson, Gudmar, PhD and Voight, Benjamin F., PhD and Erdmann, Jeanette, PhD and Willenborg, Christina, MSc and Vaidya, Dhananjay, MBBS, PhD, MPH and Xie, Changchun, PhD and Patterson, Chris C., PhD and Morgan, Thomas M., MD and Burnett, Mary Susan, PhD and Li, Mingyao, PhD and Hlatky, Mark A., MD and Knowles, Joshua W., MD, PhD and Thompson, John R., PhD and Absher, Devin, PhD and Iribarren, Carlos, MD, MPH, PhD and Go, Alan, MD and Fortmann, Stephen P., MD and Sidney, Stephen, MD, MPH and Risch, Neil, PhD and Tang, Hua, PhD and Myers, Richard M., PhD and Berger, Klaus, MD and Stoll, Monika, PhD and Shah, Svati H., MD, MHS and Thorgeirsson, Gudmundur, MD, PhD and Andersen, Karl, MD, PhD and Havulinna, Aki S., MSc and Herrera, J. Enrique, MS and Faraday, Nauder, MD and Kim, Yoonhee, PhD and Kral, Brian G., MD, MPH and Mathias, Rasika A., ScD and Ruczinski, Ingo, PhD and Suktitipat, Bhoom, MD and Wilson, Alexander F., PhD and Yanek, Lisa R., MPH and Becker, Lewis C., MD and Linsel-Nitschke, Patrick, MD and Lieb, Wolfgang, MD and König, Inke R., PhD and Hengstenberg, Christian, MD and Fischer, Marcus, MD and Stark, Klaus, PhD and Reinhard, Wibke, MD and Winogradow, Janina, MD and Grassl, Martina, MD and Grosshennig, Anika, MSc and Preuss, Michael, MSc and Schreiber, Stefan, MD and Wichmann, H.-Erich, MD and Meisinger, Christa, MD, MPH and Yee, Jean, BS and Friedlander, Yechiel, PhD and Do, Ron, MSc and Meigs, James B., MD, MPH and Williams, Gordon, MD and Nathan, David M., MD and MacRae, Calum A., MD, PhD and Qu, Liming, MS and Wilensky, Robert L., MD and Matthai, William H., MD and Qasim, Atif N., MD and Hakonarson, Hakon, MD, PhD and Pichard, Augusto D., MD and Kent, Kenneth M., MD, PhD and Satler, Lowell, MD and Lindsay, Joseph M., MD and Waksman, Ron, MD and Knouff, Christopher W., MD, PhD and Waterworth, Dawn M., PhD and Walker, Max C., BSc and Mooser, Vincent E., MD and Marrugat, Jaume, MD, PhD and Lucas, Gavin, PhD and Subirana, Isaac, MSc and Sala, Joan, MD and Ramos, Rafael, MD, PhD and Martinelli, Nicola, MD and Olivieri, Oliviero, MD and Trabetti, Elisabetta, PhD and Malerba, Giovanni, PhD and Pignatti, Pier Franco, MD and Guiducci, Candace, BS and Mirel, Daniel, PhD and Parkin, Melissa, BS and Hirschhorn, Joel N., MD, PhD and Asselta, Rosanna, PhD and Duga, Stefano, PhD and Musunuru, Kiran, MD, PhD, MPH and Daly, Mark J., PhD and Purcell, Shaun, PhD and Eifert, Sandra, MD and Braund, Peter S., MSc and Wright, Benjamin J., PhD and Balmforth, Anthony J., PhD and Ball, Stephen G., PhD and ... and Cardiogenics and Wellcome Trust Case Control and Myocardial Infarction Genet and Wellcome Trust Case Control Consortium and Myocardial Infarction Genetics Consortium and Kardiovaskulär forskning - hypertoni and Cardiovascular Research - Hypertension and EpiHealth: Epidemiology for Health and Lund University and Lunds universitet and EXODIAB: Excellence in Diabetes Research in Sweden
JACC (Journal of the American College of Cardiology), ISSN 0735-1097, 2010, Volume 56, Issue 19, pp. 1552 - 1563
Objectives We sought to replicate the association between the kinesin-like protein 6 (KIF6) Trp719Arg polymorphism (rs20455), and clinical coronary artery... 
Cardiovascular | Internal Medicine | coronary artery disease | polymorphism | KIF6 | kinesin-like protein 6 | myocardial infarction | OR | single nucleotide polymorphism | CI | CAD | Abbreviations and Acronyms | HR | odds ratio | SNP | hazard ratio | confidence interval | MI | POPULATION | CARDIAC & CARDIOVASCULAR SYSTEMS | RISK-FACTORS | GENOMEWIDE ASSOCIATION | GENOTYPE DATA | HEART-DISEASE | GENE VARIANTS | CHROMOSOME 9P21.3 | CARDIOVASCULAR-DISEASE | NONFATAL MYOCARDIAL-INFARCTION | HEALTH | Humans | Middle Aged | Risk Factors | Tryptophan - genetics | Male | Coronary Artery Disease - enzymology | Case-Control Studies | Internationality | Arginine - genetics | Coronary Artery Disease - genetics | Kinesin - genetics | Polymorphism, Single Nucleotide - genetics | Female | Coronary Artery Disease - epidemiology | Genome-Wide Association Study - methods | Hypertension | Medical colleges | Medical research | Genetic disorders | Environmental health | Chronic diseases | Family medicine | Coronary heart disease | Population genetics | Biometry | Anopheles | Medicine, Experimental | Genetic aspects | Diabetes | Cardiology | Public health | Medical informatics | Kinesin | Heart | Heart attacks | African Americans | Cardiovascular disease | Genomes | Proteins | Studies | Confidence intervals | Consortia | International organizations | Ischemia | Womens health | Atherosclerosis | Age | Hispanics | Kardiologi | Clinical Medicine | Cardiac and Cardiovascular Systems | Medical and Health Sciences | myocardial | Medicin och hälsovetenskap | infarction | Klinisk medicin
Journal Article
Lancet, The, ISSN 0140-6736, 2011, Volume 377, Issue 9763, pp. 383 - 392
Journal Article
PLoS Neglected Tropical Diseases, ISSN 1935-2727, 04/2018, Volume 12, Issue 4, p. e0006429
Journal Article
PLoS Genetics, ISSN 1553-7390, 05/2018, Volume 14, Issue 5, p. e1007386
Journal Article
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 12/2013, Volume 8, Issue 1, pp. 192 - 192
Journal Article