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Nature (London), ISSN 0028-0836, 10/2008, Volume 455, Issue 7215, pp. 912 - 918
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Mental Disorders - genetics | Animals | Synapses - metabolism | Humans | Gene Expression Regulation | Cytoskeleton - metabolism | Neurons - metabolism | Homeostasis - genetics | Mental Disorders - physiopathology | Homeostasis | Physiological aspects | Development and progression | Research | Neurons | Mental illness | Proteins | Molecules | Autism | Disease | Protein synthesis | Social interaction | Rodents | Genetics | Behavior | Index Medicus
Journal Article
Nature genetics, ISSN 1061-4036, 09/2013, Volume 45, Issue 11, pp. 1319 - 1327
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Genetic Variation | Sequence Deletion | Frameshift Mutation | Base Sequence | Humans | DNA Breaks | DNA Replication - genetics | Genotype | DNA Copy Number Variations - genetics | DNA Repair - genetics | Gene Rearrangement - genetics | Sequence Analysis, DNA | Chromosome replication | Copy number variations | Observations | Identification and classification | Genetic screening | Methods | Standards | Genomes | Mutation | Genetic testing | Gene expression | Genomics | Deoxyribonucleic acid--DNA | Index Medicus | MECP2 | triplication | CNVs | complex rearrangements | MMBIR | FoSTeS | duplication
Journal Article
American journal of human genetics, ISSN 0002-9297, 11/2014, Volume 95, Issue 5, pp. 565 - 578
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Immunohistochemistry | Microcephaly - genetics | Microtubule-Associated Proteins - genetics | Chromosome Breakpoints | Humans | Molecular Sequence Data | Chromosomes, Human, Pair 17 - genetics | Intellectual Disability - genetics | Flow Cytometry | Base Sequence | Retrospective Studies | Smith-Magenis Syndrome | Dishevelled Proteins | Abnormalities, Multiple - genetics | Chromosome Deletion | Cell Line | Gene Dosage - genetics | Asialoglycoprotein Receptor - genetics | Acyl-CoA Dehydrogenase, Long-Chain - genetics | Zebrafish | Phosphoproteins - genetics | Sequence Analysis, DNA | Syndrome | Animals | Adaptor Proteins, Signal Transducing - genetics | Genetic research | Genetic aspects | Research | Genetic variation | Mental retardation | Genotype & phenotype | Genetic disorders | Genomics | Genes | Index Medicus
Journal Article
Molecular psychiatry, ISSN 1359-4184, 02/2016, Volume 21, Issue 2, pp. 178 - 188
Biochemistry & Molecular Biology | Neurosciences | Neurosciences & Neurology | Life Sciences & Biomedicine | Psychiatry | Science & Technology | Dendrites - metabolism | Gene Dosage - physiology | Genetic Association Studies | Neurons | Humans | Male | Neurogenesis | Methyl-CpG-Binding Protein 2 - genetics | Methyl-CpG-Binding Protein 2 - physiology | Nerve Net - metabolism | Gene Duplication - genetics | Cell Differentiation | Induced Pluripotent Stem Cells | Epigenetic inheritance | Medical colleges | Nervous system diseases | Analysis | Stem cells | Health aspects | Protein binding | Care and treatment | Research | Risk factors | Genetic disorders | Gene mutations | Development and progression | Genetic aspects | Diagnosis | Neurological research | Index Medicus | MeCP2 | duplication syndrome | drug screening | disease modeling | epigenetic drugs | multi-electrode arrays | induced pluripotent stem cells | HDAC inhibitors | NCH-51
Journal Article
American journal of medical genetics. Part A, ISSN 1552-4825, 11/2016, Volume 170, Issue 11, pp. 2943 - 2955
epilepsy | microcephaly | associations, genotype–phenotype | tremor | macrocephaly | hypotonia | 16p11.2 deletion | manifestations, neurogical | 16p11.2 duplication | incoordination | copy number variants, DNA | articulation disorders, developmental | sacral dimple | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Chromosome Deletion | Chromosome Duplication | Humans | Middle Aged | Child, Preschool | Genotype | Infant | Male | Electroencephalography | Epilepsy - diagnosis | Young Adult | Phenotype | Adolescent | Chromosomes, Human, Pair 16 | Chromosome Disorders - diagnosis | Adult | Epilepsy - genetics | Female | Child | Chromosome Disorders - genetics | Cohort Studies | Autism | Development and progression | Genetic aspects | Index Medicus
Journal Article
Nature genetics, ISSN 1061-4036, 11/2011, Volume 43, Issue 11, pp. 1074 - 1081
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Biological and medical sciences | Diverse techniques | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Phenotype | Gene Rearrangement | Humans | Repetitive Sequences, Nucleic Acid | Polymorphism, Single Nucleotide | Genome, Human | Methyl-CpG-Binding Protein 2 - genetics | Studies | Haplotypes | Genotype & phenotype | Genetics | Genomes | Genomics | Index Medicus
Journal Article
Human molecular genetics, ISSN 0964-6906, 6/2009, Volume 18, Issue 12, pp. 2188 - 2203
Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | Fundamental and applied biological sciences. Psychology | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Gene Duplication | Humans | Templates, Genetic | Male | Methyl-CpG-Binding Protein 2 - genetics | DNA Repair | Gene Rearrangement | DNA Breaks | Female | Genetic Diseases, X-Linked - genetics | Transcription, Genetic | Inverted Repeat Sequences | Cohort Studies | Index Medicus
Journal Article
American journal of medical genetics. Part A, ISSN 1552-4825, 05/2010, Volume 152A, Issue 5, pp. 1079 - 1088
MECP2 | epilepsy | mental retardation | recurrent infections | IRAK1 | Xq28 | FLNA | autism | Autism | Epilepsy | Recurrent infections | Mental retardation | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Autistic Disorder - genetics | Gene Duplication | Abnormalities, Multiple - diagnosis | Humans | Abnormalities, Multiple - epidemiology | Abnormalities, Multiple - genetics | Methyl-CpG-Binding Protein 2 - genetics | Syndrome | Index Medicus
Journal Article