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Human genetics, ISSN 0340-6717, 12/2012, Volume 131, Issue 12, pp. 1821 - 1832
Gene Function | Human Genetics | Molecular Medicine | Biomedicine | Metabolic Diseases | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Chromosome Deletion | Contractile Proteins - genetics | Humans | Gray Platelet Syndrome - genetics | Integrins - genetics | Myosin Heavy Chains - genetics | Platelet Membrane Glycoproteins - genetics | Chromosomes, Human, Pair 11 - genetics | Molecular Motor Proteins - genetics | Wiskott-Aldrich Syndrome - genetics | Thrombocytopenia - blood | Filamins | Jacobsen Distal 11q Deletion Syndrome - genetics | Thrombocytopenia - genetics | Ankyrin Repeat - genetics | ATP-Binding Cassette Transporters - genetics | Bernard-Soulier Syndrome - genetics | GATA1 Transcription Factor - genetics | Genetic Diseases, X-Linked - genetics | Mutation | von Willebrand Diseases - genetics | Microfilament Proteins - genetics | Index Medicus | Thrombocytopenia | Clinical aspects | Reviews | Etiology | Platelets | Fechtner syndrome
Journal Article
American journal of human genetics, ISSN 0002-9297, 11/2019, Volume 105, Issue 5, pp. 1023 - 1029
Mendelian | exome sequencing | genetics | disease gene | blindness | AP1B1 | deafness | ichthyosis | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Cell Proliferation - genetics | Deafness - genetics | Genes, Recessive - genetics | Humans | Photophobia - genetics | Male | Mutation - genetics | Protein Transport - genetics | Hearing Loss - genetics | Thrombocytopenia - genetics | Cell Differentiation - genetics | Adaptor Protein Complex 1 - genetics | Phenotype | Ichthyosis - genetics | Female | Adaptor Protein Complex beta Subunits - genetics | Protein Subunits - genetics | Medicine, Experimental | Medical research | Research | Gene mutations | Risk factors | Ichthyosis | Vision disorders | Usage | Genetic aspects | Exome sequencing | Index Medicus | Report
Journal Article
Clinical immunology (Orlando, Fla.), ISSN 1521-6616, 2016, Volume 163, pp. 60 - 65
Allergy and Immunology | Autoimmunity | IPEX | Mutation | FOXP3 | Primary immunodeficiency | Life Sciences & Biomedicine | Immunology | Science & Technology | Eczema - genetics | Eczema - immunology | Immune System Diseases - genetics | Humans | Diabetes Mellitus, Type 1 - congenital | Infant | Male | Meningoencephalitis - immunology | Thrombocytopenia - genetics | Immunoglobulin E - immunology | Diarrhea - immunology | Eosinophilia - genetics | Fatal Outcome | Hepatomegaly - immunology | Genetic Diseases, X-Linked - genetics | Diabetes Mellitus, Type 1 - immunology | Dimerization | Hemorrhage - genetics | Sepsis - immunology | Splenomegaly - genetics | Growth Disorders - immunology | Hemorrhage - immunology | Splenomegaly - immunology | Thrombocytopenia - immunology | Immune System Diseases - immunology | Leukocytosis - immunology | Meningoencephalitis - genetics | Diabetes Mellitus, Type 1 - genetics | Models, Molecular | Klebsiella Infections - genetics | Hepatomegaly - genetics | Forkhead Transcription Factors - genetics | Sepsis - genetics | Lung Diseases - immunology | Genetic Diseases, X-Linked - immunology | Immune System Diseases - congenital | Thymus Gland - abnormalities | Lung Diseases - genetics | Eosinophilia - immunology | Diarrhea - genetics | Klebsiella Infections - immunology | Phenylalanine - genetics | Hydrophobic and Hydrophilic Interactions | Growth Disorders - genetics | Leukocytosis - genetics | Index Medicus
Journal Article
Nature genetics, ISSN 1061-4036, 05/2013, Volume 45, Issue 5, pp. 531 - 536
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Hemolytic-Uremic Syndrome - etiology | Renal Insufficiency, Chronic | Genes, Recessive - genetics | Humans | Child, Preschool | Molecular Sequence Data | Infant | Male | Acute Kidney Injury - genetics | Mutation - genetics | Diacylglycerol Kinase - genetics | Immunoenzyme Techniques | Thrombotic Microangiopathies - genetics | Hemolytic-Uremic Syndrome - pathology | Thrombocytopenia - genetics | Exome - genetics | Female | Atypical Hemolytic Uremic Syndrome | Child | Care and treatment | Gene mutations | Von Willebrand factor | Genetic aspects | Research | Health aspects | Hemolytic-uremic syndrome | Risk factors | Proteins | Studies | Confidence intervals | Pediatrics | Genealogy | Databases | Genetics | Amino acids | Genomes | Mutation | Age | Siblings | Index Medicus | Life Sciences
Journal Article
American journal of human genetics, ISSN 0002-9297, 03/2013, Volume 92, Issue 3, pp. 431 - 438
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Cricetinae | Genetic Predisposition to Disease | Humans | Asian Continental Ancestry Group - genetics | Cytoskeleton - genetics | Male | Thrombocytopenia - blood | Thrombocytopenia - metabolism | Thrombocytopenia - genetics | Exome - genetics | Animals | Blood Platelets - metabolism | Pedigree | Actinin - genetics | Cytoskeleton - metabolism | Female | Mice | Mutation | Megakaryocytes - metabolism | Sequence Analysis, DNA - methods | CHO Cells | Thrombocytopenia | Usage | Gene mutations | Exome sequencing | Causes of | Genetic aspects | Research | Diagnosis | Medical colleges | Crosslinked polymers | Genetic disorders | Analysis | Genomics | Genetic research | Muscle proteins | Ovarian cancer | Proteins | Blood platelets | Rodents | Cytoskeleton | Blood diseases | Cells | Index Medicus | Transfection | Fetuses | Megakaryocytes | Platelets | Bleeding | Report
Journal Article
American journal of human genetics, ISSN 0002-9297, 12/2015, Volume 97, Issue 6, pp. 848 - 854
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Synostosis - metabolism | Transcription Factor AP-1 - genetics | Humans | Child, Preschool | Molecular Sequence Data | Ulna - abnormalities | Male | Mutation, Missense | Synostosis - genetics | Transcription Factor AP-1 - metabolism | Exome | Thrombocytopenia - genetics | Proto-Oncogenes - genetics | Base Sequence | Bone Marrow - metabolism | Female | Transcription, Genetic | Radius - metabolism | Child | Protein Structure, Tertiary | Amino Acid Sequence | Signal Transduction | Gene Expression Regulation | Thrombocytopenia - congenital | Models, Molecular | Hematopoiesis - genetics | Radius - abnormalities | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Sequence Analysis, DNA | Thrombocytopenia - metabolism | Animals | Transforming Growth Factor beta - genetics | Ulna - metabolism | Bone Marrow - abnormalities | MDS1 and EVI1 Complex Locus Protein | Transforming Growth Factor beta - metabolism | Musculoskeletal diseases | Genetic disorders | Gene mutations | Causes of | Blood clotting disorders | Genetic aspects | Health aspects | Bone marrow | Genetics | Chromatin | Gene loci | Mutation | Binding sites | Index Medicus | Report
Journal Article
Nature genetics, ISSN 1061-4036, 2012, Volume 44, Issue 4, pp. 435 - 9, S1-2
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Biological and medical sciences | Complex syndromes | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Medical genetics | RNA-Binding Proteins - genetics | Humans | Child, Preschool | Infant | Male | 5' Untranslated Regions - genetics | Genetic Variation | Thrombocytopenia - genetics | Young Adult | Base Sequence | Adult | Female | Child | Infant, Newborn | Amino Acid Sequence | Genetic Predisposition to Disease | Thrombocytopenia - congenital | Radius - abnormalities | Upper Extremity Deformities, Congenital - genetics | Sequence Analysis, DNA | Zebrafish - genetics | Sequence Alignment | Animals | Platelet Count | Adolescent | Polymorphism, Single Nucleotide | Mutation | Physiological aspects | TAR syndrome | Research | Single nucleotide polymorphisms | RNA | Medical research | Genetics | Genes | Index Medicus
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JAK2 haplotype is a major risk factor for the development of myeloproliferative neoplasms
Nature genetics, ISSN 1061-4036, 04/2009, Volume 41, Issue 4, pp. 446 - 449
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Biological and medical sciences | Genetics of eukaryotes. Biological and molecular evolution | Genetic Predisposition to Disease - genetics | Humans | Janus Kinase 2 - genetics | Polycythemia Vera - enzymology | Genotype | Male | Polycythemia Vera - genetics | Hematologic Neoplasms - enzymology | Thrombocytopenia - genetics | Haplotypes - genetics | Homozygote | Thrombocytopenia - enzymology | Pedigree | Female | Heterozygote | Hematologic Neoplasms - genetics | Models, Genetic | Polymorphism, Single Nucleotide | Amino Acid Substitution | Gene mutations | Physiological aspects | Genetic aspects | Research | Protein kinases | Myeloproliferative disorders | Risk factors | Genotype & phenotype | Ratios | Hypotheses | Genetic disorders | Technological change | Expected values | Index Medicus
Journal Article
International journal of hematology, ISSN 0925-5710, 8/2017, Volume 106, Issue 2, pp. 189 - 195
Thrombocytopenia | Medicine & Public Health | Hematology | Predisposition | Acute leukemia | Oncology | Germline | ETV6 | Life Sciences & Biomedicine | Science & Technology | Myeloid Cells - cytology | Genetic Predisposition to Disease - genetics | Genetic Testing | Genetic Association Studies | Proto-Oncogene Proteins c-ets - genetics | Proto-Oncogene Proteins c-ets - physiology | Humans | Repressor Proteins - genetics | Hematopoiesis - genetics | Germ-Line Mutation - genetics | Precursor Cell Lymphoblastic Leukemia-Lymphoma - genetics | Repressor Proteins - physiology | Thrombocytopenia - genetics | Cell Differentiation - genetics | Myelodysplastic Syndromes - genetics | Genes, Dominant - genetics | Leukemia, Myeloid, Acute - genetics | Gene mutations | Leukemia | Genetic aspects | Acute lymphatic leukemia | Maturation | Myeloid leukemia | Disorders | Runx1 protein | Lymphatic leukemia | Patients | Myelodysplastic syndrome | Bleeding | Hemopoiesis | Hereditary diseases | Hematopoiesis | Children | Mutation | Differentiation | Acute myeloid leukemia | Index Medicus
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