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Ophthalmic epidemiology, ISSN 0928-6586, 2/2013, Volume 20, Issue 1, pp. 13 - 25
Inherited retinal dystrophies | macular dystrophy | pigmentary retinopathy | inherited optic neuropathies | molecular diagnosis | Molecular diagnosis | Pigmentary retinopathy | Inherited optic neuropathies | Macular dystrophy | Life Sciences & Biomedicine | Ophthalmology | Science & Technology | Humans | Middle Aged | Optic Nerve Diseases - diagnosis | Child, Preschool | Eye Diseases, Hereditary - diagnosis | Infant | Male | Young Adult | Molecular Diagnostic Techniques | ATP-Binding Cassette Transporters - genetics | DNA Mutational Analysis | Intermediate Filament Proteins - genetics | Polymerase Chain Reaction | Aged, 80 and over | Adult | Female | Eye Proteins - genetics | Child | Peripherins | France - epidemiology | Extracellular Matrix Proteins - genetics | Myosins - genetics | Nerve Tissue Proteins - genetics | Optic Nerve Diseases - genetics | Eye Diseases, Hereditary - genetics | Membrane Glycoproteins - genetics | Retinal Dystrophies - diagnosis | Retinal Dystrophies - epidemiology | Myosin VIIa | Adolescent | Aged | Mutation | Eye Diseases, Hereditary - epidemiology | Optic Nerve Diseases - epidemiology | Retinal Dystrophies - genetics | Index Medicus | Membrane Glycoproteins/genetics | Retinal Dystrophies/genetics | France/epidemiology | Optic Nerve Diseases/genetics | Extracellular Matrix Proteins/genetics | Eye Proteins/genetics | Life Sciences | Intermediate Filament Proteins/genetics | Optic Nerve Diseases/diagnosis | Optic Nerve Diseases/epidemiology | Myosins/genetics | Retinal Dystrophies/diagnosis | Eye Diseases, Hereditary/genetics | Nerve Tissue Proteins/genetics | ATP-Binding Cassette Transporters/genetics | Retinal Dystrophies/epidemiology | Eye Diseases, Hereditary/epidemiology | Eye Diseases, Hereditary/diagnosis
Journal Article
Nature genetics, ISSN 1061-4036, 10/2008, Volume 40, Issue 10, pp. 1175 - 1184
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Glomerulonephritis | Nephropathies. Renovascular diseases. Renal failure | Nephrology. Urinary tract diseases | Biological and medical sciences | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | European Continental Ancestry Group - genetics | Genetic Predisposition to Disease - genetics | Glomerulosclerosis, Focal Segmental - genetics | Humans | Middle Aged | Risk Factors | African Americans - genetics | Myosin Heavy Chains - genetics | Male | Chromosome Mapping | DNA Primers - chemistry | Molecular Motor Proteins - genetics | Case-Control Studies | Lod Score | AIDS-Associated Nephropathy - genetics | Chromosomes, Human, Pair 22 - genetics | Haplotypes - genetics | Polymorphism, Single Nucleotide - genetics | Adult | Female | Hypertension - genetics | Genome, Human | Glomerulosclerosis, Focal Segmental - pathology | Genetic Linkage | Chromosome mapping | Demographic aspects | Genetic variation | African Americans | Genetic aspects | Research | Health aspects | Methods | Risk factors | Medical research | Genetics | Genes | Cancer | Index Medicus
Journal Article
Human genetics, ISSN 0340-6717, 12/2012, Volume 131, Issue 12, pp. 1821 - 1832
Gene Function | Human Genetics | Molecular Medicine | Biomedicine | Metabolic Diseases | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Chromosome Deletion | Contractile Proteins - genetics | Humans | Gray Platelet Syndrome - genetics | Integrins - genetics | Myosin Heavy Chains - genetics | Platelet Membrane Glycoproteins - genetics | Chromosomes, Human, Pair 11 - genetics | Molecular Motor Proteins - genetics | Wiskott-Aldrich Syndrome - genetics | Thrombocytopenia - blood | Filamins | Jacobsen Distal 11q Deletion Syndrome - genetics | Thrombocytopenia - genetics | Ankyrin Repeat - genetics | ATP-Binding Cassette Transporters - genetics | Bernard-Soulier Syndrome - genetics | GATA1 Transcription Factor - genetics | Genetic Diseases, X-Linked - genetics | Mutation | von Willebrand Diseases - genetics | Microfilament Proteins - genetics | Index Medicus | Thrombocytopenia | Clinical aspects | Reviews | Etiology | Platelets | Fechtner syndrome
Journal Article
Seminars in nephrology, ISSN 0270-9295, 07/2018, Volume 38, Issue 4, pp. 317 - 324
apoliprotein L1 | cardiovascular disease | dialysis survival | APOL1 | diabetic nephropathy | Life Sciences & Biomedicine | Urology & Nephrology | Science & Technology | Genomics | Glomerulosclerosis, Focal Segmental - genetics | Humans | Myosin Heavy Chains - genetics | Arteriosclerosis - genetics | Cardiovascular Diseases - genetics | Molecular Motor Proteins - genetics | Genetic Variation | Anemia - genetics | Cardiovascular Diseases - complications | Receptor, Angiotensin, Type 1 - genetics | Bone Diseases, Metabolic - complications | Nephrosclerosis - genetics | Sickle Cell Trait - genetics | Precision Medicine | Genetic Predisposition to Disease | Dipeptidases - genetics | Oxidative Stress - genetics | Apolipoprotein L1 - genetics | Diabetic Nephropathies - genetics | Genotype | Nerve Tissue Proteins - genetics | Kidney Failure, Chronic - genetics | Anemia - complications | Infection - genetics | Kidney Failure, Chronic - complications | Lim Kinases - genetics | Polymorphism, Single Nucleotide | Bone Diseases, Metabolic - genetics | Complement Factor H - genetics | Infection - complications | Chimerin Proteins - genetics
Journal Article
Nature genetics, ISSN 1061-4036, 10/2008, Volume 40, Issue 10, pp. 1185 - 1192
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Nephropathies. Renovascular diseases. Renal failure | Renal failure | Nephrology. Urinary tract diseases | Biological and medical sciences | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Diabetes Mellitus - pathology | Prospective Studies | Diabetes Mellitus - genetics | Glomerulosclerosis, Focal Segmental - genetics | Humans | Middle Aged | Myosin Heavy Chains - genetics | Male | DNA Primers - chemistry | Molecular Motor Proteins - genetics | Case-Control Studies | Lod Score | Chromosomes, Human, Pair 22 - genetics | Haplotypes - genetics | Kidney Failure, Chronic - pathology | Female | Genetic Linkage | European Continental Ancestry Group - genetics | Genetic Predisposition to Disease - genetics | Risk Factors | African Americans - genetics | Chromosome Mapping | Kidney Failure, Chronic - genetics | Polymorphism, Single Nucleotide - genetics | Genome, Human | Glomerulosclerosis, Focal Segmental - pathology | Cohort Studies | Cellular proteins | Care and treatment | Chronic kidney failure | African Americans | Genetic aspects | Disease susceptibility | Comparative analysis | Health aspects | Risk factors | Medical research | Research methodology | Genetics | Risk | Kidney diseases | Diabetes | Chromosomes | Cancer | Index Medicus
Journal Article
Neuron (Cambridge, Mass.), ISSN 0896-6273, 08/2012, Volume 75, Issue 4, pp. 618 - 632
Neurosciences | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Neurons - pathology | Microtubule-Associated Proteins - genetics | Tauopathies - genetics | Cytoskeletal Proteins - genetics | Gelsolin - metabolism | Microtubule-Associated Proteins - metabolism | Humans | Actins - metabolism | Tauopathies - pathology | Cytoplasm - metabolism | MicroRNAs - metabolism | Green Fluorescent Proteins - genetics | Mitochondrial Proteins - genetics | Drosophila Proteins - metabolism | GTP-Binding Proteins - genetics | Nerve Degeneration - metabolism | Neurons - ultrastructure | tau Proteins - genetics | Cell Death - genetics | Mitochondria - genetics | Mitochondrial Proteins - metabolism | ATP Synthetase Complexes - metabolism | Cell Cycle Proteins - genetics | Tauopathies - complications | Cytoskeletal Proteins - metabolism | Myosins - metabolism | Cytoplasm - genetics | RNA Interference - physiology | Disease Models, Animal | In Situ Nick-End Labeling | Green Fluorescent Proteins - metabolism | Animals, Genetically Modified | Gene Expression Regulation - genetics | Drosophila | Cell Cycle Proteins - metabolism | Mitochondria - metabolism | Mitochondria - pathology | Mutation - genetics | Animals | GTP Phosphohydrolases - metabolism | Analysis of Variance | GTP Phosphohydrolases - genetics | Gelsolin - genetics | Mice | Drosophila Proteins - genetics | Nerve Degeneration - etiology | Voltage-Dependent Anion Channels - metabolism | GTP-Binding Proteins - metabolism | Nervous system diseases | Actin | Neurons | Utrophin | Myosin | Mitochondrial DNA | Alzheimer's disease | Proteins | Phosphorylation | Mitochondria | Neurotoxicity | Insects | Microscopy | Neurodegeneration | Pathogenesis | Morphology | Mutation | Defects | Index Medicus | Neurodegenerative diseases | Tau protein | Cell death | Elongation
Journal Article
Molecular and Cellular Biology, ISSN 0270-7306, 05/2007, Volume 27, Issue 9, pp. 3441 - 3455
Biochemistry & Molecular Biology | Life Sciences & Biomedicine | Science & Technology | Cell Biology | RNA-Binding Proteins - genetics | Saccharomyces cerevisiae - genetics | Endoplasmic Reticulum - metabolism | Myosin Heavy Chains - genetics | rab GTP-Binding Proteins - genetics | Mitochondrial Proteins - genetics | Saccharomyces cerevisiae - metabolism | Biological Transport | Exocytosis - genetics | Cell Division | Peroxins | Nuclear Proteins - genetics | Membrane Proteins - genetics | R-SNARE Proteins - genetics | RNA, Messenger - genetics | Cytoskeleton - genetics | Repressor Proteins - genetics | Electron Transport Complex IV - genetics | Saccharomyces cerevisiae Proteins - genetics | DNA-Binding Proteins - genetics | Saccharomyces cerevisiae - cytology | Carrier Proteins - genetics | Cell Polarity - genetics | Adaptor Proteins, Signal Transducing | Myosin Type V - genetics | Cell Nucleus - genetics | Saccharomyces cerevisiae Proteins - metabolism | Protein Binding | Cytoskeleton - secretion | cdc42 GTP-Binding Protein, Saccharomyces cerevisiae - genetics | RNA-Binding Proteins - metabolism | Index Medicus
Journal Article
Science (American Association for the Advancement of Science), ISSN 0036-8075, 8/2010, Volume 329, Issue 5993, pp. 841 - 845
Haplotypes | Kidneys | Focal segmental glomerulosclerosis | REPORTS | Diabetic nephropathies | African Americans | Disease risk | Kidney diseases | Chromosomes | Genetic mutation | Genotypes | Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Sequence Deletion | Lipoproteins, HDL - genetics | Lipoproteins, HDL - blood | Glomerulosclerosis, Focal Segmental - genetics | Humans | Lipoproteins, HDL - metabolism | Myosin Heavy Chains - genetics | Kidney Failure, Chronic - ethnology | Molecular Motor Proteins - genetics | Case-Control Studies | Trypanosoma brucei rhodesiense - metabolism | Apolipoproteins - genetics | Glomerulosclerosis, Focal Segmental - ethnology | Trypanosomiasis, African - genetics | Recombinant Proteins - metabolism | Genetic Predisposition to Disease | Genetic Association Studies | Apolipoproteins - metabolism | Gene Frequency | Africa | Selection, Genetic | African Americans - genetics | Logistic Models | Apolipoproteins - blood | Immunity, Innate | Linkage Disequilibrium | Kidney Failure, Chronic - genetics | Trypanosomiasis, African - parasitology | Alleles | Apolipoprotein L1 | Hypertension - complications | Polymorphism, Single Nucleotide | Cohort Studies | Kidney Failure, Chronic - etiology | Genetic aspects | Demographic aspects | Health aspects | Proteins | Mutation | Population genetics | Index Medicus | Confidence intervals | Genes | Evolution | Signatures | Survival | Trypanosome
Journal Article