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Pediatric rheumatology online journal, ISSN 1546-0096, 06/2016, Volume 14, Issue 1, pp. 35 - 35
CANDLE | Type I interferonopathies | Familial lupus | Type I interferon | Aicardi-Goutières syndrome | SAVI | Pediatrics | Life Sciences & Biomedicine | Rheumatology | Science & Technology | Proteome - genetics | Nervous System Malformations - immunology | Rare Diseases - immunology | Humans | Vascular Calcification - genetics | Rare Diseases - diagnosis | Arthritis, Juvenile - diagnosis | Metacarpus - abnormalities | Interferon Type I - immunology | Mutation - immunology | Autoimmune Diseases - genetics | Osteochondrodysplasias - genetics | Proteome - immunology | Lupus Erythematosus, Systemic - immunology | Osteoporosis - genetics | Autoimmune Diseases of the Nervous System - diagnosis | Metacarpus - immunology | Osteochondrodysplasias - immunology | Osteoporosis - immunology | Signal Transduction | Vascular Calcification - immunology | Aortic Diseases - immunology | Autoimmune Diseases - immunology | Autoimmune Diseases - diagnosis | Mutation - genetics | Odontodysplasia - immunology | Lupus Erythematosus, Systemic - diagnosis | Autoimmune Diseases of the Nervous System - immunology | Dental Enamel Hypoplasia - immunology | Homozygote | Aortic Diseases - genetics | Muscular Diseases - immunology | Rare Diseases - therapy | Arthritis, Juvenile - immunology | Lupus Erythematosus, Systemic - genetics | Nervous System Malformations - diagnosis | Autoimmune Diseases - therapy | Interferon Type I - genetics | Odontodysplasia - genetics | Muscular Diseases - genetics | Dental Enamel Hypoplasia - genetics | Systemic lupus erythematosus | Rheumatic diseases | Practice | Interferon | Research | Children | Rheumatologists | Health aspects | Risk factors | Index Medicus
Journal Article
Nature reviews. Genetics, ISSN 1471-0056, 05/2018, Volume 19, Issue 5, pp. 253 - 268
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Rare Diseases - genetics | Genetic Predisposition to Disease | Humans | Rare Diseases - diagnosis | Child, Preschool | Infant | Male | Genetic Variation | Adolescent | Female | Genome, Human | Genome-Wide Association Study - methods | Genomics - methods | Child | Infant, Newborn | Disease | Genomics | Genetic diversity | Children | Diagnosis | Medical diagnosis | Population genetics | Index Medicus
Journal Article
Genetics (Austin), ISSN 0016-6731, 2017, Volume 207, Issue 1, pp. 9 - 27
Human | Diagnostics | Drosophila | Whole-exome sequencing | Zebrafish | Genetic diseases | Functional genomics | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Rare Diseases - genetics | Humans | Genetic Diseases, Inborn - genetics | Rare Diseases - diagnosis | Genetic Diseases, Inborn - therapy | Genetic Testing - methods | Zebrafish - genetics | Exome | Animals | Rare Diseases - therapy | Genetic Diseases, Inborn - diagnosis | Disease Models, Animal | Drosophila - genetics | Biomedical research | Yeast | Disease | Pathogenesis | Genomics | Genes | Research guides | Genomes | Organisms | Hybridization | Medical diagnosis | Cell cycle | Genetics | Physiology | Diagnosis | Medical research | Genetic disorders | Gene families | Organs | Genetic diversity | Diseases | Studies | Researchers | Insects | Collaboration | Diagnostic systems | Index Medicus | genetic diseases | diagnostics | functional genomics | Review | zebrafish | human | whole-exome sequencing
Journal Article
The New England journal of medicine, ISSN 0028-4793, 11/2018, Volume 379, Issue 22, pp. 2131 - 2139
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Rare Diseases - genetics | Diagnosis, Differential | United States | Drosophila | Humans | Rare Diseases - diagnosis | Male | Sequence Analysis, DNA | Syndrome | Exome | National Institutes of Health (U.S.) | Animals | Health Care Costs - statistics & numerical data | Adult | Female | Models, Animal | Genetic Testing - economics | Child | Health care | Metabolomics | Genetic disorders | Teams | Genomes | Diagnosis | Medical diagnosis | Patients | Genetic screening | Index Medicus | Abridged Index Medicus
Journal Article
American journal of human genetics, ISSN 0002-9297, 05/2017, Volume 100, Issue 5, pp. 695 - 705
rare diseases | gene discovery | transcriptome sequencing | solving the unsolved | disease modeling | genome sequencing | IRDiRC | Matchmaker Exchange | ontologies | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Exome | Rare Diseases - genetics | Humans | Rare Diseases - diagnosis | International Cooperation | Genome, Human | Databases, Factual | Genetic disorders | Diagnosis | International aspects | Genetic screening | Methods | Index Medicus
Journal Article