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Nature neuroscience, ISSN 1097-6256, 2014, Volume 17, Issue 6, pp. 764 - 772
Neurosciences | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Exome - genetics | Genetic Predisposition to Disease - genetics | Genetic Association Studies - trends | Humans | Genetic Association Studies - methods | Mutation - genetics | Nervous System Diseases - genetics | Nervous System Diseases - diagnosis | Autism | Gene mutations | Epilepsy | Genetic aspects | Research | Health aspects | Risk factors | Index Medicus
Journal Article
Science (American Association for the Advancement of Science), ISSN 0036-8075, 10/2013, Volume 342, Issue 6154, pp. 84 - 84
RESEARCH ARTICLE SUMMARY | Genomes | Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Genomics | Humans | Selection, Genetic | Molecular Sequence Annotation - methods | Binding Sites - genetics | RNA, Untranslated - genetics | Genetic Variation | Neoplasms - genetics | Kruppel-Like Transcription Factors - metabolism | Polymorphism, Single Nucleotide | Mutation | Genome, Human | Population - genetics | Index Medicus
Journal Article
Nature communications, ISSN 2041-1723, 2014, Volume 5, Issue 1, pp. 5595 - 5595
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Autistic Disorder - genetics | Genetic Predisposition to Disease | Humans | PAX5 Transcription Factor - genetics | Risk | DNA-Binding Proteins - genetics | Intelligence - genetics | Sequence Analysis, DNA | Intelligence Tests | Carrier Proteins - genetics | ras GTPase-Activating Proteins - genetics | Base Sequence | Family | Mutation | Ubiquitin-Protein Ligases - genetics | Index Medicus
Journal Article
Cell (Cambridge), ISSN 0092-8674, 07/2014, Volume 158, Issue 2, pp. 263 - 276
Biochemistry & Molecular Biology | Life Sciences & Biomedicine | Science & Technology | Cell Biology | Megalencephaly - pathology | Humans | Child, Preschool | Molecular Sequence Data | Child Development Disorders, Pervasive - physiopathology | Male | Macaca mulatta | Brain - growth & development | DNA-Binding Proteins - metabolism | Female | Gastrointestinal Tract - innervation | Child | Child Development Disorders, Pervasive - classification | Amino Acid Sequence | Child Development Disorders, Pervasive - pathology | Zebrafish Proteins - metabolism | Gastrointestinal Tract - physiopathology | Zebrafish | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Transcription Factors - metabolism | Sequence Alignment | Animals | Child Development Disorders, Pervasive - genetics | Adolescent | Brain - pathology | Mutation | Zebrafish Proteins - genetics | Autism | Analysis | Genetic aspects | Medical colleges | Hospitals | Comorbidity | Genomics | Medical genetics | Index Medicus | dysmorphology | zebrafish modeling | enteric neurons | midbrain expansion | macrocephaly | gastrointestinal defect | autism subtypes | forebrain | Autism spectrum disorder
Journal Article
Cell (Cambridge), ISSN 0092-8674, 05/2018, Volume 173, Issue 6, pp. 1356 - 1369.e22
segmental duplications | structural variation | neurodevelopment | human evolution | Notch signaling | neural stem cells | cortical organoids | neurodevelopmental disorders | autism | 1q21.1 | Biochemistry & Molecular Biology | Life Sciences & Biomedicine | Science & Technology | Cell Biology | Embryonic Stem Cells - metabolism | Brain - embryology | Signal Transduction | Humans | Receptor, Notch2 - metabolism | Receptor, Notch2 - genetics | Pan troglodytes | Gorilla gorilla | Animals | Sequence Analysis, RNA | Neurogenesis - physiology | Gene Deletion | HEK293 Cells | Cerebral Cortex - physiology | Female | Neocortex - cytology | Neuroglia - metabolism | Cell Differentiation | Neurons - metabolism | Neural Stem Cells - metabolism | Genes, Reporter | Proteins | Autism | Evolutionary biology | Neurons | Analysis | Genes | Stem cells | Human evolution | Index Medicus
Journal Article
Neuron (Cambridge, Mass.), ISSN 0896-6273, 10/2011, Volume 72, Issue 2, pp. 257 - 268
Neurosciences | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Frontotemporal Dementia - genetics | Haplotypes | Genetic Predisposition to Disease | Amyotrophic Lateral Sclerosis - genetics | Humans | Genotype | Male | Chromosomes, Human, Pair 9 | Pedigree | Alleles | Finland | Female | Polymorphism, Single Nucleotide | Microsatellite Repeats | Medical colleges | Molecular genetics | Neurons | Genes | Oncology, Experimental | Amyotrophic lateral sclerosis | Research | Gene expression | Genetic research | Cytogenetics | Genetic aspects | Alzheimer's disease | Public health | Cancer | Index Medicus
Journal Article
Nature genetics, ISSN 1061-4036, 2017, Volume 49, Issue 4, pp. 515 - 526
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Autistic Disorder - genetics | Phenotype | Humans | Female | Male | Developmental Disabilities - genetics | Mutation - genetics | Intellectual Disability - genetics | Consortia | Autism | Councils | Intellectual disabilities | Genes | Mutation | Siblings | Index Medicus | Medicin och hälsovetenskap
Journal Article