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The Lancet (British edition), ISSN 0140-6736, 2015, Volume 385, Issue 9975, pp. 1305 - 1314
Internal Medicine | Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Humans | Child, Preschool | Incidental Findings | Infant | Male | Developmental Disabilities - genetics | Genome, Human - genetics | Information Dissemination | Specimen Handling | Phenotype | Adolescent | Female | Heterozygote | Genetic Variation - genetics | Genome-Wide Association Study - methods | Child | Developmental Disabilities - diagnosis | Infant, Newborn | Medical research | Analysis | Genomics | Medicine, Experimental | Genetic research | Genomes | Nucleotide sequencing | DNA sequencing | Mutation | Medical diagnosis | Genes | Developmental disabilities | Index Medicus | Abridged Index Medicus
Journal Article
American journal of human genetics, ISSN 0002-9297, 01/2018, Volume 102, Issue 1, pp. 175 - 187
KDM5B | histone lysine methyltransferase | KMT2C | histone lysine demethylase | KMT2B | Developmental disorders | chromatin remodeling | KMT5B | ASH1L | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Histone-Lysine N-Methyltransferase - genetics | Developmental Disabilities - enzymology | Humans | Adolescent | Child, Preschool | Female | Male | Developmental Disabilities - genetics | Mutation | Child | Histone Demethylases - genetics | Haploinsufficiency | Methyltransferases | Lysine | Analysis | Genomics | Cytogenetics | Methylation | Pediatric neurology | Index Medicus | Report
Journal Article
Nature (London), ISSN 0028-0836, 09/2016, Volume 537, Issue 7621, pp. 508 - 514
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Genetic research | Phenotype | Research | High-throughput screening (Biochemical assaying) | Methods | Genotype & phenotype | Disease | Developmental biology | Genes | Genomes | Mutation | Embryos | Index Medicus | knockout | embryonic lethal | mouse | KOMP | IMPC | EUCOMM
Journal Article
Nature neuroscience, ISSN 1097-6256, 02/2019, Volume 22, Issue 2, pp. 205 - 217
Neurosciences | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Memory Disorders - genetics | Nuclear Receptor Co-Repressor 2 - genetics | Memory Disorders - metabolism | Mice, Transgenic | Nuclear Receptor Co-Repressor 1 - genetics | Intellectual Disability - genetics | Intellectual Disability - metabolism | Animals | Hypothalamus - metabolism | Neuronal Plasticity - physiology | Receptors, GABA-A - genetics | Nuclear Receptor Co-Repressor 1 - metabolism | CA3 Region, Hippocampal - metabolism | Neural Pathways - metabolism | Nuclear Receptor Co-Repressor 2 - metabolism | Mice | Receptors, GABA-A - metabolism | GABAergic Neurons - metabolism | Excitatory Postsynaptic Potentials - genetics | Databases, Factual | Memory - physiology | Gene expression | Research | Hypothalamus | Potentiation | Histone deacetylase | γ-Aminobutyric acid A receptors | Neurons | Long-term potentiation | SMRT protein | Hypothalamus (lateral) | Projection | Activation | Social factors | Neurodevelopmental disorders | Depletion | Social interactions | Synaptic plasticity | Anxiety | Mutation | Hippocampus | Index Medicus
Journal Article
Nature communications, ISSN 2041-1723, 2018, Volume 9, Issue 1, pp. 4619 - 12
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Brain | Phenotypes | Disorders | Genomes | Neurodevelopmental disorders | Remodeling | Gene sequencing | Chromatin remodeling | Proteins | DNA helicase | Alterations | Missense mutation | Language | Speech | Children | Mutation | Disruption | Three dimensional models | Adenosine triphosphatase | Genotypes | Index Medicus | Life Sciences | Neurons and Cognition | Biochemistry, Molecular Biology | Neurobiology | Genetics | Biomolecules | Development Biology | Human genetics | Embryology and Organogenesis
Journal Article
American journal of human genetics, ISSN 0002-9297, 06/2019, Volume 104, Issue 6, pp. 1210 - 1222
KMT2E | epilepsy | H3K4 methylation | global developmental delay | neurodevelopmental disorder | intellectual disability | epileptic encephalopathy | autism | yes | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Humans | Child, Preschool | Infant | Male | DNA-Binding Proteins - genetics | Epilepsy - etiology | Neurodevelopmental Disorders - pathology | Haploinsufficiency | Genetic Variation | Young Adult | Phenotype | Pedigree | Adolescent | Adult | Female | Heterozygote | Child | Epilepsy - pathology | Neurodevelopmental Disorders - etiology | Genetic variation | Epilepsy | Nervous system | Genetic aspects | Degeneration | Research | Risk factors | Index Medicus | Life Sciences | Genetics | Human genetics | Report | Medicin och hälsovetenskap
Journal Article