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Congenital anomalies, ISSN 1741-4520, 1987
Journal
Physiological research, ISSN 0862-8408, 2018, Volume 67, Issue Supplementum 3, pp. S441 - S454
Celiac disease | Crohn disease | Osteoporosis | Phenylketonuria | Hyperthyreosis | Rheumatoid arthritis | Life Sciences & Biomedicine | Physiology | Science & Technology | Crohn Disease - genetics | Celiac Disease - genetics | Diabetes Mellitus - genetics | Humans | Crohn Disease - metabolism | Diabetes Mellitus - metabolism | Bone Remodeling - physiology | Crohn Disease - complications | Metabolic Diseases - metabolism | Osteoporosis - metabolism | Osteoporosis - complications | Celiac Disease - complications | Metabolic Diseases - genetics | Osteoporosis - genetics | Celiac Disease - metabolism | Metabolic Diseases - complications | Genes | Systematic review | Diabetes mellitus (insulin dependent) | Inflammatory diseases | Acquired immune deficiency syndrome--AIDS | Population | Bone density | Bone (cortical) | Diabetes mellitus (non-insulin dependent) | Gluten | Chronic illnesses | Cytokines | Diabetes mellitus | Inflammation | Bone turnover | Quality of life | Fractures | Womens health | Collagen | Adults | Diabetes | Porosity | Autoimmune diseases | Metabolic disorders
Journal Article
Pediatric Nephrology, ISSN 0931-041X, 3/2010, Volume 25, Issue 3, pp. 415 - 424
Pyrimidine metabolism | Pediatrics | Nephrocalcinosis | Medicine & Public Health | Glycogen storage disease type 1 | Primary hyperoxaluria | Nephrolithiasis | Uric acid | Xanthine | Fanconi syndrome | Cystinuria | Purine metabolism | Glycogen storage disease type 1 | Life Sciences & Biomedicine | Urology & Nephrology | Science & Technology | Amino Acid Metabolism, Inborn Errors - complications | Nephrolithiasis - etiology | Purine-Pyrimidine Metabolism, Inborn Errors - metabolism | Humans | Glycogen Storage Disease Type I - metabolism | Hyperoxaluria - etiology | Metabolism, Inborn Errors - genetics | Glycogen Storage Disease Type I - complications | Amino Acid Metabolism, Inborn Errors - metabolism | Glycogen Storage Disease Type I - genetics | Amino Acid Metabolism, Inborn Errors - genetics | Purine-Pyrimidine Metabolism, Inborn Errors - complications | Purine-Pyrimidine Metabolism, Inborn Errors - genetics | Nephrolithiasis - genetics | Child | Hyperoxaluria - genetics | Metabolism, Inborn Errors - complications | Metabolic disorders | Index Medicus | Educational Review
Journal Article
Pediatric research, ISSN 0031-3998, 01/2020, Volume 87, Issue 2, pp. 293 - 299
Life Sciences & Biomedicine | Pediatrics | Science & Technology | Genetic Predisposition to Disease | Risk Assessment | Humans | Risk Factors | Autoimmunity - genetics | Primary Immunodeficiency Diseases - physiopathology | Immune System - growth & development | Rheumatic Diseases - genetics | Rheumatic Diseases - physiopathology | Phenotype | Animals | Primary Immunodeficiency Diseases - immunology | Immune System - immunology | Primary Immunodeficiency Diseases - complications | Primary Immunodeficiency Diseases - genetics | Rheumatic Diseases - immunology | Medical research | Baldness | Disease | Pathogenesis | Genes | Homeostasis | Infections | T cell receptors | Arthritis | Defects | Genotype & phenotype | Alopecia | Lymphocytes | Mutation | Health risk assessment | Immune system | Index Medicus
Journal Article
Arteriosclerosis, thrombosis, and vascular biology, ISSN 1079-5642, 11/2020, Volume 41, Issue 1, pp. 35 - 47
Metacarpus - metabolism | Humans | Odontodysplasia - metabolism | Vascular Calcification - genetics | Metacarpus - abnormalities | Dental Enamel Hypoplasia - complications | Aortic Diseases - metabolism | Arteries - metabolism | Vascular Calcification - metabolism | Osteoporosis - metabolism | Vascular Calcification - complications | Osteoporosis - genetics | Dental Enamel Hypoplasia - metabolism | Osteogenesis - genetics | Genetic Predisposition to Disease | Gaucher Disease - metabolism | Risk Assessment | Muscular Diseases - metabolism | Risk Factors | Metabolism, Inborn Errors - metabolism | Heredity | Arteries - pathology | Gaucher Disease - complications | Vascular Calcification - pathology | Metabolism, Inborn Errors - genetics | Odontodysplasia - complications | Aortic Diseases - genetics | Phenotype | Animals | Gaucher Disease - genetics | Osteoporosis - complications | Aortic Diseases - complications | Muscular Diseases - complications | Odontodysplasia - genetics | Muscular Diseases - genetics | Dental Enamel Hypoplasia - genetics | Metabolism, Inborn Errors - complications | Index Medicus
Journal Article
Clinics in liver disease, ISSN 1089-3261, 11/2018, Volume 22, Issue 4, pp. 671 - 687
Cirrhosis | Zellweger spectrum disorder | Neonatal cholestasis | Liver | Gastroenterology & Hepatology | Life Sciences & Biomedicine | Science & Technology | Genetic Testing | Humans | Liver Diseases - pathology | Bile Acids and Salts - metabolism | Adrenal Hyperplasia, Congenital - complications | Adrenal Hyperplasia, Congenital - genetics | 3-Oxo-5-alpha-Steroid 4-Dehydrogenase - deficiency | Acyl-CoA Oxidase - deficiency | Metabolism, Inborn Errors - genetics | Cholic Acid - therapeutic use | Metabolism, Inborn Errors - diagnosis | Cholestasis - etiology | Xanthomatosis, Cerebrotendinous - genetics | Liver Diseases - etiology | Racemases and Epimerases - deficiency | Steroid Hydroxylases - deficiency | Xanthomatosis, Cerebrotendinous - complications | Amino-Acid N-Acetyltransferase - deficiency | Metabolism, Inborn Errors - drug therapy | Metabolism, Inborn Errors - complications
Journal Article
Journal of allergy and clinical immunology, ISSN 0091-6749, 2014, Volume 135, Issue 6, pp. 1641 - 1643.e3
Allergy and Immunology | Allergy | Immunology | Life Sciences & Biomedicine | Science & Technology | Common Variable Immunodeficiency - immunology | Alopecia - complications | Alopecia - immunology | Humans | Genetic Diseases, Inborn - genetics | Hypoglycemia - immunology | Molecular Sequence Data | Male | Hypoglycemia - pathology | Killer Cells, Natural - pathology | Genetic Diseases, Inborn - pathology | Adrenocorticotropic Hormone - genetics | Respiratory Tract Infections - genetics | Endocrine System Diseases - immunology | Alopecia - genetics | NF-kappa B p52 Subunit - genetics | Adrenocorticotropic Hormone - deficiency | Base Sequence | Genetic Diseases, Inborn - complications | Killer Cells, Natural - immunology | Adult | Respiratory Tract Infections - complications | B-Lymphocytes - pathology | Endocrine System Diseases - genetics | T-Lymphocytes - pathology | Endocrine System Diseases - pathology | Respiratory Tract Infections - pathology | Hypoglycemia - genetics | Gene Expression | NF-kappa B p52 Subunit - immunology | Common Variable Immunodeficiency - pathology | Genetic Diseases, Inborn - immunology | Common Variable Immunodeficiency - genetics | Common Variable Immunodeficiency - complications | Alopecia - pathology | B-Lymphocytes - immunology | Adrenocorticotropic Hormone - immunology | Respiratory Tract Infections - immunology | Hypoglycemia - complications | Heterozygote | T-Lymphocytes - immunology | Mutation | Cytotoxicity, Immunologic | Endocrine System Diseases - complications | Immunoglobulins | Baldness | Laboratories | Cytotoxicity | Infections | Kinases | Hypothyroidism | Patients | Defects | Genotype & phenotype | Hormone replacement therapy | Age | Immune system | Index Medicus | Abridged Index Medicus
Journal Article
Annual review of genomics and human genetics, ISSN 1527-8204, 8/2019, Volume 20, Issue 1, pp. 155 - 179
North Africa | consanguinity | genetic disease | endogamy | founder mutation | Communicable Diseases - pathology | Genetic Diseases, Inborn - ethnology | Humans | Genetic Diseases, Inborn - genetics | Communicable Diseases - genetics | Male | Genetic Diseases, Inborn - pathology | Founder Effect | Neoplasms - complications | Ethnic Groups | Neoplasms - ethnology | Neoplasms - genetics | Genetic Diseases, Inborn - complications | Female | Severity of Illness Index | Neurodegenerative Diseases - pathology | Neurodegenerative Diseases - genetics | Genes, Recessive | Neurodegenerative Diseases - complications | Genetic Heterogeneity | Communicable Diseases - ethnology | Consanguinity | Mutation | Neurodegenerative Diseases - ethnology | Africa, Northern - epidemiology | Neoplasms - pathology | Communicable Diseases - complications | Inbreeding | Genetic disorders | Etiology | Index Medicus
Journal Article
Journal of inherited metabolic disease, ISSN 0141-8955, 2011, Volume 34, Issue 1, pp. 159 - 164
Biochemistry, general | Human Genetics | Pediatrics | Internal Medicine | Medicine & Public Health | Metabolic Diseases | Endocrinology & Metabolism | Genetics & Heredity | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Biological and medical sciences | Metabolic diseases | Medical sciences | Medical genetics | Diagnosis, Differential | Multiple Acyl Coenzyme A Dehydrogenase Deficiency - diagnosis | Humans | Bulbar Palsy, Progressive - diagnosis | Bulbar Palsy, Progressive - therapy | Bulbar Palsy, Progressive - complications | Infant | Male | Hearing Loss, Sensorineural - genetics | Metabolism, Inborn Errors - therapy | Metabolism, Inborn Errors - genetics | Hearing Loss, Sensorineural - diagnosis | Metabolism, Inborn Errors - diagnosis | Multiple Acyl Coenzyme A Dehydrogenase Deficiency - genetics | Hearing Loss, Sensorineural - therapy | Membrane Transport Proteins - genetics | Bulbar Palsy, Progressive - genetics | Riboflavin - metabolism | Female | Hearing Loss, Sensorineural - complications | Child | Siblings | Medical colleges | Deafness | Neurosciences | Nervous system diseases | Dehydrogenation | Analysis | Physiological aspects | Paralysis | Adipic acid | Organic acids | Index Medicus | Rapid Communication
Journal Article
2013, ISBN 9781617050565, xiv, 356
Book
Blood, ISSN 0006-4971, 05/2017, Volume 129, Issue 19, pp. 2710 - 2710
Life Sciences & Biomedicine | Hematology | Science & Technology | Mitochondrial Diseases - pathology | Lipid Metabolism, Inborn Errors - genetics | Congenital Bone Marrow Failure Syndromes | Humans | Mitochondrial Diseases - metabolism | Infant | Male | Anemia, Sideroblastic - metabolism | Mitochondrial Diseases - complications | Lipid Metabolism, Inborn Errors - pathology | Anemia, Sideroblastic - complications | Bone Marrow - metabolism | Anemia, Sideroblastic - pathology | Bone Marrow Diseases - complications | Mitochondrial Diseases - genetics | Lipid Metabolism, Inborn Errors - metabolism | Acyl-CoA Dehydrogenase, Long-Chain - metabolism | Muscular Diseases - metabolism | Acyl-CoA Dehydrogenase, Long-Chain - genetics | Bone Marrow Diseases - metabolism | Muscular Diseases - pathology | Bone Marrow Diseases - pathology | Bone Marrow Diseases - genetics | Anemia, Sideroblastic - genetics | Bone Marrow - pathology | Muscular Diseases - complications | Lipid Metabolism, Inborn Errors - complications | Muscular Diseases - genetics | Acyl-CoA Dehydrogenase, Long-Chain - deficiency | Index Medicus | Abridged Index Medicus
Journal Article
Human genetics, ISSN 0340-6717, 02/2020, Volume 139, Issue 6-7, pp. 911 - 918
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Central Nervous System Diseases - genetics | Encephalitis, Herpes Simplex - immunology | Genetic Predisposition to Disease | Central Nervous System Diseases - epidemiology | Humans | Central Nervous System Diseases - immunology | Encephalitis, Herpes Simplex - epidemiology | Central Nervous System Diseases - virology | Herpes Simplex - immunology | Host-Pathogen Interactions - immunology | Immunity, Cellular - immunology | Herpes Simplex - virology | Encephalitis, Herpes Simplex - virology | Host-Pathogen Interactions - genetics | Encephalitis, Herpes Simplex - genetics | Herpes Simplex - complications | Herpesvirus 1, Human - immunology | Mutation | Child | Herpesvirus 1, Human - pathogenicity | Virus diseases | Encephalitis | Antiviral agents | Central nervous system | Herpes simplex | Genetic aspects | Herpes simplex virus | α-Interferon | Immunology | Brain stem | Herpes viruses | Toll-like receptors | Forebrain | Nervous system | Children | TLR3 protein | Index Medicus
Journal Article