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Kidney international, ISSN 0085-2538, 09/2014, Volume 86, Issue 3, pp. 459 - 461
Life Sciences & Biomedicine | Urology & Nephrology | Science & Technology | Chromosomes, Human, Pair 1 | Nephritis, Interstitial - pathology | Nephritis, Interstitial - genetics | Humans | Chromosome Aberrations | Chromosomes, Human, Pair 16 | Female | Male | Kidney Tubules - pathology | Uromodulin - genetics | Mucin-1 - genetics | Index Medicus
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The New England journal of medicine, ISSN 0028-4793, 05/2019, Volume 380, Issue 21, pp. 2080 - 2080
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Kidney international, ISSN 0085-2538, 10/2015, Volume 88, Issue 4, pp. 676 - 683
kidney disease | uromodulin | hepatocyte nuclear factor-1β | genetics | mucin-1 | renin | Life Sciences & Biomedicine | Urology & Nephrology | Science & Technology | Predictive Value of Tests | Humans | Kidney Diseases - diagnosis | Polycystic Kidney, Autosomal Dominant - therapy | Gout - diagnosis | Nephrology - standards | Kidney Diseases - genetics | Uromodulin - classification | Uromodulin - deficiency | Polycystic Kidney, Autosomal Dominant - genetics | DNA Mutational Analysis | Hyperuricemia - therapy | Uromodulin - genetics | Genetic Predisposition to Disease | Kidney Diseases - classification | Hyperuricemia - diagnosis | Hyperuricemia - classification | Terminology as Topic | Treatment Outcome | Consensus | Hyperuricemia - genetics | Gout - therapy | Phenotype | Polycystic Kidney, Autosomal Dominant - diagnosis | Kidney Diseases - therapy | Gout - classification | Gout - genetics | Polycystic Kidney, Autosomal Dominant - classification | Mutation | Index Medicus
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Translational psychiatry, ISSN 2158-3188, 12/2020, Volume 10, Issue 1, pp. 407 - 407
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Časopis lékařů českých, ISSN 0008-7335, 2018, Volume 157, Issue 3, pp. 133 - 136
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Kidney international reports, ISSN 2468-0249, 12/2020, Volume 5, Issue 12, pp. 2133 - 2135
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The Journal of clinical investigation, ISSN 0021-9738, 2012, Volume 122, Issue 2, pp. 519 - 528
Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Organic Anion Transporters, Sodium-Independent - genetics | Bilirubin - metabolism | Hyperbilirubinemia, Hereditary - genetics | Organic Anion Transporters, Sodium-Independent - deficiency | Humans | Liver - metabolism | Male | Hyperbilirubinemia, Hereditary - physiopathology | Mice, Knockout | Organic Anion Transporters - deficiency | Organic Anion Transporters - genetics | Animals | DNA Mutational Analysis | Pedigree | Hyperbilirubinemia, Hereditary - blood | Female | Mice | Bilirubin - analogs & derivatives | Solute Carrier Organic Anion Transporter Family Member 1b1 | Solute Carrier Organic Anion Transporter Family Member 1B3 | Care and treatment | Hyperbilirubinemia | Physiological aspects | Genetic aspects | Bilirubin | Research | Risk factors | Index Medicus | Abridged Index Medicus
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Journal of inherited metabolic disease, ISSN 0141-8955, 3/2015, Volume 38, Issue 2, pp. 231 - 242
Human Genetics | Biochemistry, general | Pediatrics | Internal Medicine | Medicine & Public Health | Metabolic Diseases | Endocrinology & Metabolism | Genetics & Heredity | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Autistic Disorder - genetics | Predictive Value of Tests | Diagnosis, Differential | Genetic Predisposition to Disease | Genetic Testing | Prognosis | Humans | Risk Factors | Purine-Pyrimidine Metabolism, Inborn Errors - enzymology | Autistic Disorder - epidemiology | Disease Progression | Purine-Pyrimidine Metabolism, Inborn Errors - diagnosis | Purine-Pyrimidine Metabolism, Inborn Errors - therapy | Adenylosuccinate Lyase - deficiency | Phenotype | Animals | Autistic Disorder - enzymology | Purine-Pyrimidine Metabolism, Inborn Errors - genetics | Adenylosuccinate Lyase - genetics | Mutation | Autistic Disorder - diagnosis | Autistic Disorder - therapy | Purine-Pyrimidine Metabolism, Inborn Errors - epidemiology | Metabolites | Enzymes | Seizures (Medicine) | Index Medicus | Review
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Journal of medical genetics, ISSN 0022-2593, 11/2016, Volume 53, Issue 11, pp. 768 - 775
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Mitochondrial diseases | Genetic aspects | Research | Mutation (Biology) | Risk factors | mitochondrial respiratory chain deficiencies | congenital sensorineural deafness | lactic acidosis | 1506 | Genotype-Phenotype Correlations | prognosis | renal disease
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American journal of human genetics, ISSN 0002-9297, 08/2011, Volume 89, Issue 2, pp. 241 - 252
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | General aspects. Genetic counseling | Errors of metabolism | Medical genetics | Biological and medical sciences | Metabolic diseases | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Lipids (lysosomal enzyme disorders, storage diseases) | Neurons - pathology | Humans | Molecular Sequence Data | Male | Neuronal Ceroid-Lipofuscinoses - pathology | Brain - metabolism | Lysosomes - metabolism | Neuronal Ceroid-Lipofuscinoses - genetics | Neurons - ultrastructure | Base Sequence | Brain - ultrastructure | Adult | Female | Neurons - metabolism | Genetic Linkage | Gene Dosage - genetics | HSP40 Heat-Shock Proteins - genetics | Lipoylation | Membrane Proteins - genetics | Gene Expression Regulation | Exons - genetics | Mutation - genetics | Sequence Analysis, DNA | Protein Transport | Lysosomes - ultrastructure | Pedigree | Age of Onset | Brain - pathology | Family | Genes, Dominant - genetics | Neuronal Ceroid-Lipofuscinoses - epidemiology | Chromosome Segregation - genetics | Neuronal ceroid-lipofuscinosis | Usage | Linkage (Genetics) | Analysis | Causes of | Genetic aspects | Diagnosis | Nucleotide sequencing | Gene expression | Proteins | Mutation | Tissues | Cells | Neurological disorders | Index Medicus | Neuroprotection | Deposits | Neurodegenerative diseases | Amino acids | Peptide mapping | Protein folding | Neuronal ceroid lipofuscinosis | Gene mapping | Protein interaction | Age | Linkage analysis
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Journal of neuropathology and experimental neurology, ISSN 0022-3069, 10/2020, Volume 79, Issue 10, pp. 1065 - 1071
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Kidney & blood pressure research, ISSN 1420-4096, 12/2010, Volume 33, Issue 6, pp. 456 - 475
Review | Urine | Hyperuricemia | Nephropathy | Tamm-Horsfall protein | Loop of Henle | UMOD | Determination | Uromodulin | Kidney | Physiology | Peripheral Vascular Disease | Life Sciences & Biomedicine | Cardiovascular System & Cardiology | Urology & Nephrology | Science & Technology | Kidney Diseases - physiopathology | Animals | Kidney Diseases - classification | Humans | Hyperuricemia - classification | Hyperuricemia - physiopathology | Hyperuricemia - metabolism | Mutation | Uromodulin - physiology | Kidney Diseases - metabolism | Index Medicus
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