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Human molecular genetics, ISSN 0964-6906, 4/2009, Volume 18, Issue 8, pp. 1497 - 1503
Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | Fundamental and applied biological sciences. Psychology | Psychology. Psychoanalysis. Psychiatry | Psychoses | Adult and adolescent clinical studies | Psychopathology. Psychiatry | Schizophrenia | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Schizophrenia - genetics | Gene Deletion | Humans | Female | Male | United Kingdom | Gene Dosage | Polymorphism, Single Nucleotide | Index Medicus | Association Studies
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American journal of human genetics, ISSN 0002-9297, 01/2017, Volume 100, Issue 1, pp. 75 - 90
rare sequence variant | retinal dystrophy | whole-genome sequence | copy-number variants | EXOME | DIAGNOSIS | LEBER CONGENITAL AMAUROSIS | ACTIVATION | PROTEIN | GENE | DYSTROPHY | MUTATION | STARGARDT DISEASE | REVEALS | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Rare Diseases - genetics | Retinal Diseases - genetics | Introns - genetics | Genes, Recessive - genetics | Humans | Male | Genome, Human - genetics | Choroideremia - genetics | Exome - genetics | Ethnic Groups - genetics | DNA Mutational Analysis | Base Sequence | Adaptor Proteins, Signal Transducing - genetics | Alleles | Female | Genetic Variation - genetics | Mutation | Genetic disorders | Genetic variation | Physiological aspects | Genetic aspects | Nucleotide sequencing | Health aspects | Retinal diseases | Methods | DNA sequencing | Pathology | Retina | Visual impairment | Pathogenesis | Genomics | Index Medicus
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Human mutation, ISSN 1059-7794, 12/2015, Volume 36, Issue 12, pp. 1197 - 1204
developmental delay | Mendelian disease | intellectual disability | next‐generation sequencing | Intellectual disability | Next-generation sequencing | Developmental delay | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Inheritance Patterns | Computational Biology - methods | Genetic Association Studies | Humans | Alleles | Female | Male | High-Throughput Nucleotide Sequencing | Polymorphism, Single Nucleotide | Mutation | Cohort Studies | Intellectual Disability - genetics | Parenting | Genetic disorders | Analysis | Cytogenetics | Family | Single nucleotide polymorphisms | Mental illness | Intellectual disabilities | Index Medicus | Life Sciences | Genetics | Human genetics | s
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Identification of a human synaptotagmin-1 mutation that perturbs synaptic vesicle cycling
The Journal of clinical investigation, ISSN 0021-9738, 04/2015, Volume 125, Issue 4, pp. 1670 - 1678
Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Calcium - metabolism | Humans | Molecular Sequence Data | Male | Motor Skills Disorders - genetics | Mutation, Missense | Exocytosis - physiology | Recombinant Fusion Proteins - metabolism | Intellectual Disability - genetics | Exocytosis - genetics | Genes, Dominant | Evoked Potentials, Visual | Endocytosis - genetics | Child | Synaptic Vesicles - physiology | Amino Acid Sequence | Membrane Fusion | Cells, Cultured | Rats | Presynaptic Terminals - physiology | Hippocampus - cytology | Synaptotagmin I - genetics | Endocytosis - physiology | Sequence Homology, Amino Acid | Point Mutation | Sequence Alignment | Animals | Mice | Kinetics | Movement Disorders - genetics | Synaptotagmin I - physiology | Cellular proteins | Genetic aspects | Genetic variation | Health aspects | Cellular control mechanisms | Studies | Medical research | Pediatrics | Mutation | Behavior | Age | Index Medicus | Abridged Index Medicus
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Nature genetics, ISSN 1061-4036, 09/2008, Volume 40, Issue 9, pp. 1056 - 1058
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Psychology. Psychoanalysis. Psychiatry | Adult and adolescent clinical studies | Cell membranes. Ionic channels. Membrane pores | Psychopathology. Psychiatry | Mood disorders | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Cell structures and functions | Bipolar disorders | Genetic Predisposition to Disease | Genome-Wide Association Study | Calcium Channels, L-Type - genetics | Ankyrins - genetics | Chromosomes, Human, Pair 15 | Humans | Logistic Models | Polymorphism, Single Nucleotide | Chromosomes, Human, Pair 12 | Bipolar Disorder - genetics | Chromosomes, Human, Pair 10 | Calcium channels | Genetic variation | Bipolar disorder | Genetic aspects | Research | Health aspects | Risk factors | Studies | Blood transfusions | Medical research | Inflation | Trinity | Colleges & universities | Index Medicus
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Nature genetics, ISSN 1061-4036, 11/2009, Volume 41, Issue 11, pp. 1223 - 1227
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Psychology. Psychoanalysis. Psychiatry | Psychoses | Adult and adolescent clinical studies | Psychopathology. Psychiatry | Schizophrenia | Biological and medical sciences | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Gene Duplication | Genetic Predisposition to Disease | Schizophrenia - genetics | Humans | Risk Factors | Chromosomes, Human, Pair 16 | Usage | DNA microarrays | Gene mutations | Genetic aspects | Research | Health aspects | Risk factors | Mental health care | Autism | Mental disorders | Data collection | Grants | Children & youth | Independent sample | Index Medicus
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Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia
Nature genetics, ISSN 1061-4036, 2017, Volume 49, Issue 2, pp. 223 - 237
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Histone-Lysine N-Methyltransferase - genetics | Humans | Male | DNA-Binding Proteins - genetics | Mutation - genetics | Dystonia - genetics | Lysine - genetics | Histone Methyltransferases | Histones - genetics | Adolescent | Female | Methylation | Nuclear Proteins - genetics | Gene mutations | Methyltransferases | Development and progression | Genetic aspects | Dystonia | Health aspects | Risk factors | Studies | Consortia | Medical imaging | Statistical analysis | Brain research | Neural networks | Fibroblasts | Genomes | Mutation | Patients | Age | Index Medicus | Klinisk medicin | Clinical Medicine
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