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The Journal of clinical investigation, ISSN 0021-9738, 05/2015, Volume 125, Issue 5, pp. 2151 - 2160
Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Sequence Deletion | Exoribonucleases - genetics | Pakistan - ethnology | Frameshift Mutation | Exoribonucleases - deficiency | Humans | Child, Preschool | Male | Mutation, Missense | Telomere Homeostasis - genetics | Dyskeratosis Congenita - genetics | Female | Child | Exoribonucleases - physiology | Protein Structure, Tertiary | Down-Regulation | RNA, Small Interfering - pharmacology | Cells, Cultured | Models, Molecular | Exome - genetics | Phenotype | Pedigree | Alleles | Protein Conformation | Consanguinity | DNA Damage | Mutation | Protein Isoforms - genetics | Telomeres | Epithelial cells | Abnormalities | Physiological aspects | Genetic aspects | Ribonuclease | Research | Risk factors | Consent | Families & family life | Software | Genomes | Gene expression | Telomerase | Deoxyribonucleic acid--DNA | Cancer | Index Medicus | Abridged Index Medicus | Hematology | Aging | Genetics
Journal Article
The Lancet (British edition), ISSN 0140-6736, 2017, Volume 389, Issue 10084, pp. 2105 - 2116
Internal Medicine | Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Women | Clinical trials | Hysterectomy | Health aspects | Surgery | Mortality | Medical research | Analysis | Patient outcomes | Medicine, Experimental | Mothers | Postpartum period | Intravenous administration | Risk | Birth | Hemorrhage | Evidence-based medicine | Clinical outcomes | Bleeding | Postpartum | Maternal mortality | Randomization | Motivation | Drug therapy | Thromboembolism | Vagina | Patients | Trauma | Childbirth & labor | Charities | Side effects | Acids | Womens health | Death | Fatalities | Hygiene | Enzymes | Systematic review | Consent | Index Medicus | Abridged Index Medicus
Journal Article
Nature genetics, ISSN 1061-4036, 05/2010, Volume 42, Issue 5, pp. 406 - 409
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Hematologic and hematopoietic diseases | Anemias. Hemoglobinopathies | Diseases of red blood cells | Biological and medical sciences | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Humans | Family Health | Infant | Male | Mutation, Missense | DNA-Binding Proteins - genetics | Homozygote | Pedigree | Recombination, Genetic | DNA Repair | Germ-Line Mutation | Female | Consanguinity | Fanconi Anemia - genetics | DNA Damage | Mutation | Child | Infant, Newborn | Gene mutations | Physiological aspects | Genetic aspects | Research | DNA repair | Health aspects | Risk factors | Fanconi's anemia | Proteins | Medical research | Genetics | Cancer | Index Medicus
Journal Article
Nature genetics, ISSN 1061-4036, 2013, Volume 45, Issue 1, pp. 83 - 87
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Antigens, Neoplasm - genetics | Humans | Muscle, Skeletal - ultrastructure | Genes, Recessive | Exome | Lysosomes - metabolism | Proteins - metabolism | Biopsy | Agenesis of Corpus Callosum - genetics | Cataract - genetics | Family | Consanguinity | Autophagy - genetics | Muscle, Skeletal - pathology | Mutation | Autophagy (Cytology) | Genetic disorders | Gene mutations | Syndromes | Genetic aspects | Health aspects | Multiple abnormalities | Cell culture | Biomedical research | Homeostasis | Kinases | Autophagy | Defects | Proteins | Studies | Musculoskeletal system | Microscopy | Genetics | Charitable foundations | Index Medicus
Journal Article
American journal of human genetics, ISSN 0002-9297, 11/2011, Volume 89, Issue 5, pp. 675 - 681
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | General aspects. Genetic counseling | Medical genetics | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Chromatin - metabolism | Histone Acetyltransferases - deficiency | Humans | Histone Acetyltransferases - genetics | INDEL Mutation - genetics | Male | Intellectual Disability - genetics | Blepharophimosis - genetics | Gene Expression Regulation, Developmental | Heart Defects, Congenital | Microarray Analysis | Congenital Hypothyroidism - genetics | Facies | Adult | Female | Child | Abnormalities, Multiple - genetics | Mice, Transgenic | Metabolism, Inborn Errors - genetics | Exome - genetics | Animals | Polymorphism, Single Nucleotide - genetics | Mice | Chromosomes, Human, Pair 10 - genetics | Joint Instability | Codon, Nonsense - genetics | Chromatin | Usage | Gene mutations | Analysis | Exome sequencing | Histones | Causes of | Genetic aspects | Research | Health aspects | Multiple abnormalities | Proteins | Genotype & phenotype | Genetic disorders | Mutation | Gene expression | Index Medicus | Exons | Central nervous system | Ear | Development | Blepharophimosis | Histone acetyltransferase | Mental retardation | Cleft lip/palate | Limb buds | Thyroid | Report
Journal Article
Nature genetics, ISSN 1061-4036, 2009, Volume 41, Issue 5, pp. 535 - 543
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Psychology. Psychoanalysis. Psychiatry | Adult and adolescent clinical studies | Psychopathology. Psychiatry | Intellectual deficiency | Biological and medical sciences | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Genetic Variation | Mental Retardation, X-Linked - genetics | Chromosomes, Human, X - genetics | Pedigree | Humans | Exons - genetics | Female | Male | Chromosome Mapping | Sequence Analysis, DNA - methods | Genetic aspects | Research | Mental retardation | Health aspects | Risk factors | X chromosome | Studies | Data analysis | Genetic disorders | Databases | Disease | Intellectual disabilities | Genes | Learning disabilities | Medical screening | Chromosomes | Index Medicus
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 08/2011, Volume 48, Issue 8, pp. 535 - 539
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Medical genetics | Young Adult | Allelic Imbalance - genetics | Genetic Predisposition to Disease | Neoplasms - genetics | Humans | Child, Preschool | Adult | Infant | Comparative Genomic Hybridization - methods | Infant, Newborn | Usage | Developmental genetics | Comparative genomic hybridization | Genetic aspects | Research | Risk factors | Cancer | Index Medicus
Journal Article
Cell reports (Cambridge), ISSN 2211-1247, 01/2012, Volume 1, Issue 1, pp. 2 - 12
GLUT1 | EXOCYTOSIS | FAMILIES | CONFIRMATION | SUGGESTS | LINKAGE | LOCUS | UMCG Approved | HUMAN-CHROMOSOME 16 | DYSTONIC CHOREOATHETOSIS | 16P12-Q12 | Life Sciences & Biomedicine | Science & Technology | Cell Biology | Protein Binding - genetics | Central Nervous System - metabolism | Seizures - genetics | Species Specificity | Dystonia - complications | Humans | Molecular Sequence Data | Male | Seizures - complications | Dystonia - genetics | Nerve Tissue Proteins - chemistry | HEK293 Cells | Female | Amino Acid Sequence | Membrane Proteins - genetics | Rats | Mutant Proteins - metabolism | DNA Copy Number Variations - genetics | Mutation - genetics | Nerve Tissue Proteins - genetics | Sequence Analysis, DNA | Genome, Human - genetics | Phenotype | Sequence Alignment | Animals | Membrane Proteins - chemistry | Pedigree | Alleles | Mice | Synaptosomal-Associated Protein 25 - metabolism | Chromosome Segregation - genetics | Index Medicus | Axons | Cell culture | paroxysmal kinesigenic | SNAP-25 protein | Heredity | Mutation | Convulsions | Movement disorders | Dyskinesia | Membrane proteins
Journal Article