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The Lancet (British edition), ISSN 0140-6736, 2012, Volume 380, Issue 9854, pp. 1674 - 1682
Internal Medicine | Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | General aspects | Psychology. Psychoanalysis. Psychiatry | Adult and adolescent clinical studies | Psychopathology. Psychiatry | Intellectual deficiency | Biological and medical sciences | Medical sciences | Exome - genetics | Humans | Female | Male | Mutation - genetics | Child | Case-Control Studies | Intellectual Disability - genetics | Intelligence levels | Gene mutations | Intellect | Genetic aspects | Mental illness | Health aspects | Risk factors | Studies | Genetics | Mutation | Mental retardation | Index Medicus | Abridged Index Medicus
Journal Article
American journal of human genetics, ISSN 0002-9297, 12/2016, Volume 99, Issue 6, pp. 1377 - 1387
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Haploinsufficiency - genetics | Dystonic Disorders - genetics | Histone-Lysine N-Methyltransferase - genetics | Humans | Male | Young Adult | Pedigree | Base Sequence | Adolescent | Age of Onset | Adult | Female | Lysine - metabolism | Child | Genetic aspects | Dystonia | Gene mutations | Methyltransferases | Health aspects | Genotype & phenotype | Chromatin | Mutation | Pathogenesis | Posture | Index Medicus | Report
Journal Article
American journal of human genetics, ISSN 0002-9297, 07/2011, Volume 89, Issue 1, pp. 168 - 175
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | General aspects. Genetic counseling | Neurology | Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases | Medical genetics | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Haplotypes | Endosomes - genetics | Vesicular Transport Proteins - metabolism | Humans | Middle Aged | Vesicular Transport Proteins - genetics | Male | Mutation, Missense | Parkinson Disease - genetics | Endosomes - metabolism | Genetic Variation | trans-Golgi Network - metabolism | Hydrogen Bonding | Pedigree | Age of Onset | Aged, 80 and over | Adult | Female | Protein Conformation | Aged | Parkinson Disease - metabolism | Cohort Studies | Parkinson's disease | Gene mutations | Distribution | Causes of | Austrians | Genetic aspects | Diagnosis | Research | Golgi apparatus | Genotype & phenotype | Mutation | Medical screening | Parkinsons disease | Index Medicus | Missense mutation | Genotyping | Neurodegenerative diseases | endosomes | Retrograde transport | Alzheimer's disease | Age | Movement disorders | Report
Journal Article
American journal of human genetics, ISSN 0002-9297, 12/2012, Volume 91, Issue 6, pp. 1144 - 1149
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Medical genetics | Amino Acid Sequence | Iron Overload - genetics | Humans | Molecular Sequence Data | Male | Brain - metabolism | Exome | Carrier Proteins - genetics | Magnetic Resonance Imaging | Phenotype | Genes, X-Linked | Base Sequence | Alleles | Brain - pathology | Female | High-Throughput Nucleotide Sequencing | Mutation | Gene Order | Iron Overload - diagnosis | Development and progression | Neurosciences | Genetic aspects | Dementia | Genotype & phenotype | Signal transduction | Genetic disorders | Nuclear magnetic resonance--NMR | Neurodegeneration | Autophagy | Index Medicus | Brain | Basal ganglia | Substantia nigra | X chromosome | Central nervous system diseases | Globus pallidus | Iron | X-chromosome inactivation | scaffolds | Magnetic resonance imaging | Dementia disorders | Mosaicism | Dystonia | Age | Movement disorders | Phagocytosis | Report
Journal Article
American journal of human genetics, ISSN 0002-9297, 06/2012, Volume 90, Issue 6, pp. 1079 - 1087
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Cardiology. Vascular system | Heart | Medical genetics | Biological and medical sciences | Myocarditis. Cardiomyopathies | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Cardiomyopathy, Hypertrophic - genetics | Phosphorylation | Saccharomyces cerevisiae - genetics | Acidosis, Lactic - genetics | Humans | Oxidative Phosphorylation | Molecular Sequence Data | RNA, Ribosomal - metabolism | Mitochondria - metabolism | Mutation, Missense | Mothers | Paromomycin - pharmacology | Carrier Proteins - genetics | Homozygote | Phenotype | DNA, Mitochondrial - genetics | DNA Mutational Analysis | Base Sequence | RNA, Transfer - genetics | Mutation | Nucleic Acid Conformation | Respiration | Fibroblasts - metabolism | Mitochondria | Cardiomyopathy, Hypertrophic | Gene mutations | Causes of | Genetic aspects | Research | Lactic acidosis | Genetic translation | Mitochondrial DNA | Transfer RNA | Genetics | Yeast | Cells | Index Medicus | Translation | tRNA | Cardiomyopathy | rRNA | Muscles | Stress | Missense mutation | Fibroblasts | Uridine | Electron transport | Siblings | Report
Journal Article
American journal of human genetics, ISSN 0002-9297, 2011, Volume 89, Issue 4, pp. 543 - 550
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 | Amino Acid Sequence | Humans | Child, Preschool | Molecular Sequence Data | Male | Neurodegenerative Diseases - genetics | Mitochondria - metabolism | Mitochondrial Proteins - genetics | Mutation, Missense | Iron - metabolism | Case-Control Studies | Brain - metabolism | Sequence Homology, Amino Acid | Homozygote | Pedigree | Adolescent | Cloning, Molecular | Adult | Female | Heterozygote | Mutation | Child | Cohort Studies | Proteins | Brain | Iron | Neurodegeneration | Index Medicus | Basal ganglia | Deposits | Neurodegenerative diseases | Antibodies | Neuropathy | Gene deletion | Lewy bodies | Membrane proteins | optic atrophy | Mitochondria | Missense mutation | Tau protein | Autopsy | spheroids | Movement disorders | Geriatrics | Pantothenate kinase
Journal Article
American journal of human genetics, ISSN 0002-9297, 01/2014, Volume 94, Issue 1, pp. 11 - 22
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Mitochondria - enzymology | Phosphorylation | Saccharomyces cerevisiae - genetics | Humans | Gene Expression Regulation | Male | Mutation, Missense | Coenzyme A - metabolism | Iron - metabolism | Transferases - genetics | Nerve Degeneration - pathology | Brain - drug effects | Exome | Mitochondria - genetics | Escherichia coli - genetics | Pedigree | Cloning, Molecular | Pantetheine - analogs & derivatives | Brain - pathology | Female | Transferases - metabolism | Pantetheine - metabolism | Fibroblasts - metabolism | Brain | Gene mutations | Neurogenetics | Physiological aspects | Genetic aspects | Iron in the body | Research | Nucleotide sequencing | DNA sequencing | Neurodegeneration | Genomics | Iron | Biosynthesis | Mutation | Index Medicus
Journal Article
Nature genetics, ISSN 1061-4036, 01/2015, Volume 47, Issue 1, pp. 31 - 38
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Adenoma - genetics | Humans | Neoplasm Proteins - physiology | Gene Expression Regulation, Neoplastic | Cercopithecus aethiops | Endosomal Sorting Complexes Required for Transport - genetics | Molecular Sequence Data | Pituitary Neoplasms - complications | ACTH-Secreting Pituitary Adenoma - complications | Pituitary ACTH Hypersecretion - genetics | ACTH-Secreting Pituitary Adenoma - genetics | Receptor, Epidermal Growth Factor - metabolism | Pituitary Neoplasms - secretion | Neoplasm Proteins - genetics | Pro-Opiomelanocortin - genetics | Amino Acid Sequence | ACTH-Secreting Pituitary Adenoma - metabolism | Pituitary Neoplasms - genetics | Ubiquitin Thiolesterase - physiology | Pituitary Neoplasms - metabolism | Ubiquitin Thiolesterase - genetics | 14-3-3 Proteins - metabolism | Adrenocorticotropic Hormone - secretion | Sequence Homology, Amino Acid | Exome - genetics | Sequence Alignment | Animals | Endopeptidases - genetics | ACTH-Secreting Pituitary Adenoma - secretion | Pro-Opiomelanocortin - biosynthesis | Mutation | COS Cells | Endosomal Sorting Complexes Required for Transport - physiology | Endopeptidases - physiology | Gene mutations | Cushing syndrome | Physiological aspects | Genetic aspects | Research | Ubiquitin-proteasome system | Health aspects | Risk factors | Pituitary gland | Kinases | Rodents | Genes | Tumors | Index Medicus
Journal Article
Nature (London), ISSN 0028-0836, 2013, Volume 501, Issue 7468, pp. 506 - 511
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Humans | RNA, Messenger - genetics | RNA, Messenger - analysis | Exons - genetics | Gene Expression Profiling | Transcriptome - genetics | Genome, Human - genetics | Sequence Analysis, RNA | Alleles | Polymorphism, Single Nucleotide - genetics | Genetic Variation - genetics | High-Throughput Nucleotide Sequencing | Cell Line, Transformed | Quantitative Trait Loci - genetics | Studies | Population | Genomes | Gene expression | Genomics | Quality control | Index Medicus
Journal Article