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Nature genetics, ISSN 1061-4036, 2010, Volume 42, Issue 12, pp. 1109 - 1112
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Psychology. Psychoanalysis. Psychiatry | Adult and adolescent clinical studies | Psychopathology. Psychiatry | Intellectual deficiency | Biological and medical sciences | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Base Sequence | Humans | Exons - genetics | Female | Male | Mutation - genetics | Sequence Analysis, DNA | Intellectual Disability - genetics | Genetic aspects | Research | Gene mutations | Health aspects | Mental retardation | Risk factors | Studies | Candidates | Disease | Genetics | Mutation | Experiments | Chromosomes | Index Medicus
Journal Article
The New England journal of medicine, ISSN 0028-4793, 11/2012, Volume 367, Issue 20, pp. 1921 - 1929
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 | Genes, Recessive - genetics | Humans | Male | Sequence Analysis, DNA | Intellectual Disability - genetics | Young Adult | Exome - genetics | Genes, X-Linked | Adolescent | Female | Genetic Diseases, X-Linked - genetics | Mutation | Child | Usage | Gene mutations | Exome sequencing | Causes of | Genetic aspects | Research | Diagnosis | Mental retardation | Disabled people | Phenotypes | Intellectual disabilities | Families & family life | Aging | Data processing | Quality of life | Index Medicus | Abridged Index Medicus
Journal Article
Nature (London), ISSN 0028-0836, 2014, Volume 511, Issue 7509, pp. 344 - 347
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Guanine Nucleotide Exchange Factors - genetics | Chromosomes, Human, X - genetics | Humans | Male | DNA Copy Number Variations - genetics | Chromosomes, Human, Pair 4 - genetics | Mutation - genetics | Sequence Analysis, DNA | Genome, Human - genetics | Intellectual Disability - genetics | Gene Duplication - genetics | Polymorphism, Single Nucleotide - genetics | Cohort Studies | Gene mutations | Genetic variation | Causes of | Genetic aspects | Nucleotide sequencing | Mental retardation | Identification and classification | Methods | DNA sequencing | Genomes | Mutation | Intellectual disabilities | Patients | Genes | Binding sites | Index Medicus
Journal Article
Nature genetics, ISSN 1061-4036, 2014, Volume 46, Issue 4, pp. 380 - 384
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Humans | Molecular Sequence Data | Transcription Factors - genetics | Nerve Tissue Proteins - genetics | Sequence Analysis, DNA | Homeodomain Proteins - genetics | Chromosomal Proteins, Non-Histone - genetics | Exome - genetics | Child Development Disorders, Pervasive - genetics | Base Sequence | Gene Components | Real-Time Polymerase Chain Reaction | Abnormalities, Multiple - genetics | Codon, Nonsense - genetics | Frameshift Mutation - genetics | Autism | Transcription factors | Genetic aspects | Gene mutations | Identification and classification | Medical research | Comorbidity | Genes | Amino acids | Patients | Recruitment | Proteins | Studies | Confidence intervals | Mutation | Chromosomes | Deoxyribonucleic acid--DNA | Index Medicus | Medicin och hälsovetenskap
Journal Article
Nature genetics, ISSN 1061-4036, 2010, Volume 42, Issue 6, pp. 483 - 485
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Biological and medical sciences | Complex syndromes | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Medical genetics | Carrier Proteins - genetics | Base Sequence | Face - abnormalities | Humans | Molecular Sequence Data | Mutation | Nuclear Proteins - genetics | Abnormalities, Multiple - genetics | Syndrome | Intellectual Disability - genetics | Genetic disorders | Gene mutations | Diagnosis | Research | Single nucleotide polymorphisms | Health aspects | Risk factors | Medical research | Genes | Genetics | Amino acids | Chromosomes | Mental retardation | Methods | 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
Nature genetics, ISSN 1061-4036, 2014, Volume 46, Issue 10, pp. 1063 - 1071
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Autistic Disorder - genetics | Haploinsufficiency - genetics | Genetic Predisposition to Disease - genetics | Genetic Association Studies | Humans | Molecular Sequence Data | Male | Chromosome Mapping | Developmental Disabilities - genetics | Sequence Analysis, DNA | DNA Copy Number Variations | Intellectual Disability - genetics | Carrier Proteins - genetics | Comparative Genomic Hybridization | Base Sequence | Female | Polymorphism, Single Nucleotide | Nuclear Proteins - genetics | Child | Psychological aspects | Copy number variations | Genes | Genetic aspects | Health aspects | Identification and classification | Developmental delay | Studies | Medical research | Autism | Integrated approach | Genomics | Mental health | Mutation | Morbidity | Index Medicus
Journal Article
Nature genetics, ISSN 1061-4036, 2012, Volume 44, Issue 4, pp. 440 - 4, S1-2
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Biological and medical sciences | Complex syndromes | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Medical genetics | Amino Acid Sequence | Sequence Deletion | Humans | Coloboma - genetics | Molecular Sequence Data | Male | Developmental Disabilities - genetics | Brain - abnormalities | Mutation, Missense | Sequence Analysis, DNA | Syndrome | Actins - genetics | DNA Copy Number Variations | Intellectual Disability - genetics | Sequence Alignment | Base Sequence | Adolescent | Adult | Female | PAX9 Transcription Factor - genetics | Nervous System Malformations - genetics | Child | Abnormalities, Multiple - genetics | Gene mutations | Actin | Physiological aspects | Child development deviations | Genetic aspects | Research | Developmental disabilities | Proteins | Medical research | Genetics | Mutation | Index Medicus
Journal Article
Human mutation, ISSN 1059-7794, 2013, Volume 34, Issue 12, pp. 1679 - 1687
CNV | human phenotype ontology | genotype‐phenotype | copy number variation | SNP | Copy number variation | Human phenotype ontology | Genotype-phenotype | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Computational Biology - methods | Genetic Association Studies | Humans | Child, Preschool | Male | Chromosome Mapping | DNA Copy Number Variations | Intellectual Disability - genetics | Phenotype | Abnormalities, Multiple - diagnosis | Intellectual Disability - diagnosis | Adolescent | Female | Polymorphism, Single Nucleotide | Child | Abnormalities, Multiple - genetics | Index Medicus
Journal Article