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Human genetics, ISSN 0340-6717, 11/2013, Volume 132, Issue 11, pp. 1197 - 1211
Human Genetics | Gene Function | Molecular Medicine | Biomedicine | Metabolic Diseases | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Haplotypes | Homozygote | Pedigree | Humans | Chromosome Mapping | Polymorphism, Single Nucleotide | Mutation | Genome, Human | High-Throughput Nucleotide Sequencing - methods | Genes, Recessive | Sequence Analysis, DNA - methods | Microsatellite Repeats | Genetics | Genes | Genomes | Index Medicus
Journal Article
Human genetics, ISSN 0340-6717, 6/2016, Volume 135, Issue 6, pp. 615 - 623
Human Genetics | Gene Function | Molecular Medicine | Biomedicine | Metabolic Diseases | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Exome - genetics | Genetic Predisposition to Disease | Humans | Genetic Diseases, Inborn - genetics | Mutation - genetics | Sequence Analysis, DNA | Genome, Human - genetics | Genomes | Genetic aspects | Comparative analysis | Genes | Genomics | Index Medicus
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Nature (London), ISSN 0028-0836, 02/2021, Volume 590, Issue 7845, pp. 218 - 219
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Nature (London), ISSN 0028-0836, 02/2021, Volume 590, Issue 7845, pp. 218 - 219
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American journal of medical genetics. Part A, ISSN 1552-4825, 06/2020, Volume 182, Issue 6, pp. 1530 - 1531
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Trends in genetics, ISSN 0168-9525, 2014, Volume 31, Issue 2, pp. 108 - 115
Medical Education | autozygome | adaptation | evolution | druggable targets | loss of function | Evolution | Loss of function | Adaptation | Autozygome | Druggable targets | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Genome-Wide Association Study | Phenotype | Genetic Association Studies | Genes | Humans | Research | Gene Knockout Techniques | Genome, Human | Evolution, Molecular | Cells | Index Medicus
Journal Article
American journal of human genetics, ISSN 0002-9297, 08/2011, Volume 89, Issue 2, pp. 328 - 333
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 | Limb Deformities, Congenital - genetics | Genes, Recessive - genetics | Humans | Actins - metabolism | Child, Preschool | Molecular Sequence Data | Infant | Male | DNA Mutational Analysis | Guanine Nucleotide Exchange Factors - metabolism | Base Sequence | Female | Scalp Dermatoses - genetics | Scalp Dermatoses - congenital | Fibroblasts - metabolism | Guanine Nucleotide Exchange Factors - genetics | Cytoskeleton - pathology | Embryonic Development - genetics | Fibroblasts - pathology | Mutation - genetics | Animals | Pedigree | Cytoskeleton - metabolism | Ectodermal Dysplasia - genetics | Mice | Genotype & phenotype | Congenital diseases | Mutation | Cytokines | Pathogenesis | Index Medicus | Cdc42 protein | Limbs | Guanidine | Rac1 protein | Heredity | Nucleotides | Cytokinesis | Gene expression | Aplasia | Actin | Cytoskeleton | Skin | Guanosinetriphosphatase | Report
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Molecular genetics & genomic medicine, ISSN 2324-9269, 09/2014, Volume 2, Issue 5, pp. 369 - 378
Brain | Disorders | Impairment | Cognitive ability | Retina | Genetic screening | Annotations | Neurodegeneration | Bone marrow | Genetics | Marriage | Neutropenia | Strabismus | Anemia | Mortality | Abnormalities | Immunodeficiency | Hypohidrosis | Fanconi syndrome | Metabolism | Hearing loss | Hospitals | Prenatal diagnosis | Islam | Neurological complications | Osteogenesis imperfecta | Syndactyly | Consanguinity | Anomalies | Glaucoma | Hydrocephalus | Epilepsy | Myopia | Genomes | Dwarfism | Atrophy | Biomedical materials | Startle response | Population | Degeneration | BRCA2 protein | Modernization | Industrialized nations | Health care policy | Paraplegics | Thalassemia | Breast cancer | Expatriates | Minority & ethnic groups | Primary care | Corpus callosum | Medicine | Crohn's Disease | Dystrophy | Osteogenesis | Myopathy | Invited | Genetics and Genomic Medicine Around the World
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American journal of medical genetics. Part A, ISSN 1552-4825, 08/2020, Volume 182, Issue 8, pp. 1985 - 1987
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American journal of human genetics, ISSN 0002-9297, 12/2011, Volume 89, Issue 6, pp. 745 - 750
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | General aspects. Genetic counseling | Dyskeratosis | Dermatology | Medical genetics | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Genetic Association Studies | Quadriplegia - genetics | Membrane Proteins - genetics | Humans | Child, Preschool | Male | Developmental Disabilities - genetics | Genes, Recessive | Sequence Analysis, DNA | Intellectual Disability - genetics | Exome | Abnormalities, Multiple - diagnosis | Base Sequence | Intellectual Disability - diagnosis | Fatal Outcome | Ichthyosis - genetics | Quadriplegia - diagnosis | Consanguinity | Eye Proteins - genetics | Fatty Acids - metabolism | Abnormalities, Multiple - genetics | Ichthyosis - diagnosis | Brain | Usage | Gene mutations | Exome sequencing | Physiological aspects | Causes of | Genetic aspects | Quadriplegia | Research | Ichthyosis | Signal transduction | Learning disabilities | Mutation | Fatty acids | Cells | Index Medicus | Report
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Journal of allergy and clinical immunology, ISSN 0091-6749, 2012, Volume 130, Issue 2, pp. 481 - 488.e2
Allergy and Immunology | common variable immunodeficiency | autoimmunity | LPS-responsive beige-like anchor (LRBA) | chronic diarrhea | Allergy | Immunology | Life Sciences & Biomedicine | Science & Technology | Fundamental and applied biological sciences. Psychology | Gastroenterology. Liver. Pancreas. Abdomen | Stomach. Duodenum. Small intestine. Colon. Rectum. Anus | 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 | Other diseases. Semiology | Humans | Inflammatory Bowel Diseases - immunology | Molecular Sequence Data | Male | Lipopolysaccharides - immunology | Exome - immunology | Young Adult | DNA Mutational Analysis | Base Sequence | Inflammatory Bowel Diseases - genetics | Inflammatory Bowel Diseases - complications | Child | Immunophenotyping | Severe Combined Immunodeficiency - immunology | Severe Combined Immunodeficiency - complications | Severe Combined Immunodeficiency - genetics | Exome - genetics | Phenotype | Pedigree | Adaptor Proteins, Signal Transducing - deficiency | Adaptor Proteins, Signal Transducing - genetics | Adolescent | Family | Consanguinity | Mutation | Medical colleges | Gene mutations | Gastrointestinal diseases | Genes | Immunodeficiency | Genetic research | Genetic aspects | Inflammatory bowel disease | Immune system | Index Medicus | Abridged Index Medicus | Inflammatory bowel diseases | Filtration | Intestine | Phenotyping | Point mutation | Gene mapping | Immunity | Genetic screening
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