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A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures
Nature genetics, ISSN 1061-4036, 03/2008, Volume 40, Issue 3, pp. 322 - 328
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Seizures - genetics | Gene Frequency | Humans | Child, Preschool | Male | Syndrome | Intellectual Disability - genetics | Inheritance Patterns | Pedigree | Chromosomes, Human, Pair 15 | Gene Deletion | Adolescent | Female | Child | Receptors, Nicotinic - genetics | Chromosome Breakage | alpha7 Nicotinic Acetylcholine Receptor | Polymerase chain reaction | Complications and side effects | Usage | Genetic disorders | Research | Seizures (Medicine) | Mental retardation | Risk factors | Genotype & phenotype | Genetic markers | Convulsions & seizures | Intellectual disabilities | Index Medicus | epilepsy | segmental duplication | array CGH | genomic disorder | CHRNA7
Journal Article
Nature genetics, ISSN 1061-4036, 2006, Volume 38, Issue 9, pp. 1038 - 1042
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Biological and medical sciences | Genetics of eukaryotes. Biological and molecular evolution | Chromosome Deletion | Gene Duplication | Nucleic Acid Hybridization | Oligonucleotide Array Sequence Analysis | Physical Chromosome Mapping | Humans | In Situ Hybridization, Fluorescence | Gene Dosage | Intellectual Disability - genetics | Polymorphism, Genetic | Chromosomes, Human, Pair 17 | Gene Rearrangement | Chromosomes, Artificial, Bacterial | Heterozygote | Mosaicism | Genome, Human | Chromosome Breakage | Complications and side effects | Usage | Genetic disorders | DNA microarrays | DNA damage | Research | Diagnosis | Risk factors | Methods | Neuropsychology | Mental retardation | Genomics | Index Medicus
Journal Article
Nature genetics, ISSN 1061-4036, 2006, Volume 38, Issue 9, pp. 999 - 1001
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 | Haplotypes | Brain - diagnostic imaging | Prevalence | Humans | Child, Preschool | Receptors, Corticotropin-Releasing Hormone - genetics | Male | Brain - abnormalities | Chromosome Inversion | Intellectual Disability - genetics | tau Proteins - genetics | Adult | Female | Intellectual Disability - epidemiology | Chromosome Deletion | Muscle Hypotonia - genetics | Physical Chromosome Mapping | Face - pathology | Gene Frequency | Intellectual Disability - pathology | Gene Dosage | Syndrome | Polymorphism, Genetic | Radiography | Magnetic Resonance Imaging | Muscle Hypotonia - physiopathology | Chromosomes, Human, Pair 17 | Adolescent | Cohort Studies | Complications and side effects | Gene mutations | Research | Diagnosis | Mental retardation | Health aspects | Risk factors | Genetic polymorphisms | Genetic disorders | Intellectual disabilities | Genomics | Polymorphism | Index Medicus | Medicin och hälsovetenskap
Journal Article
Clinical infectious diseases, ISSN 1058-4838, 6/2015, Volume 60, Issue 11, pp. 1659 - 1666
ARTICLES AND COMMENTARIES | American Indians | Rocky Mountain spotted fever | Rhipicephalus sanguineus | fatalities | tick-borne | Infectious Diseases | Immunology | Life Sciences & Biomedicine | Microbiology | Science & Technology | Endemic Diseases | Animals | Humans | Female | Male | Rocky Mountain Spotted Fever - pathology | Rocky Mountain Spotted Fever - epidemiology | Care and treatment | Ticks | Doxycycline | Causes of | Dosage and administration | Native Americans | Health aspects | Risk factors | Infectious diseases | Antibiotics | Epidemiology | Medical treatment | Morbidity | Index Medicus
Journal Article
Nature genetics, ISSN 1061-4036, 07/2017, Volume 49, Issue 7, pp. 978 - 985
Genetics | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Autism Spectrum Disorder - genetics | Sequence Deletion | Genetic Predisposition to Disease | Genetic Association Studies | Humans | Risk Factors | Family Health | Genetics, Behavioral | Male | Educational Status | Intelligence - genetics | Multifactorial Inheritance | Intellectual Disability - genetics | Genetic Variation | Phenotype | Ethnic Groups - genetics | Schizophrenia - genetics | Autism Spectrum Disorder - epidemiology | Adult | Female | Child | Cohort Studies | Family | Genetic aspects | Genetic transformation | Research | Risk factors | Pervasive developmental disorders | Mental disorders | Intellectual disabilities | Disorders | Schizophrenia | Risk | Genomes | Cases (containers) | Subgroups | Educational attainment | Children & youth | Proteins | Studies | Consortia | Autism | Parents & parenting | Etiology | Population | Mutation | Children | Psychiatry | Index Medicus | Life Sciences | Neurons and Cognition | Neurologi | disease | biology | insights | variants | de-novo | Neurology | mutations | general-population | genetic risk | genome-wide association | loci | Medicin och hälsovetenskap
Journal Article
American journal of human genetics, ISSN 0002-9297, 05/2014, Volume 94, Issue 5, pp. 677 - 694
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Sequence Deletion | Metabolic Networks and Pathways - genetics | Multigene Family | Child Development Disorders, Pervasive - genetics | Pedigree | Humans | Female | Male | Gene Regulatory Networks | Child | DNA Copy Number Variations | Genetic research | Autism | Genetic code | Genetic aspects | Research | Genetic variation | Proteins | Chromatin | Learning disabilities | Genes | Neurological disorders | Index Medicus | Life Sciences | Genetics | Psykiatri | Psychiatry | Medicin och hälsovetenskap
Journal Article
Human molecular genetics, ISSN 0964-6906, 2007, Volume 16, Issue 5, pp. 567 - 572
Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | Fundamental and applied biological sciences. Psychology | Complex syndromes | Medical genetics | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Chromosome Deletion | Oligonucleotide Array Sequence Analysis | Humans | Molecular Sequence Data | Male | Chromosomes, Human, Pair 15 - genetics | Syndrome | DNA Mutational Analysis | Base Sequence | Adolescent | Adult | Abnormalities, Multiple - genetics | Chromosome Breakage | Index Medicus
Journal Article
Nature, ISSN 0028-0836, 07/2010, Volume 466, Issue 7304, pp. 368 - 372
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Psychology. Psychoanalysis. Psychiatry | Infantile autism | Psychopathology. Psychiatry | Developmental disorders | Biological and medical sciences | Medical sciences | Child clinical studies | Gene Dosage - genetics | Genetic Predisposition to Disease - genetics | Genome-Wide Association Study | Signal Transduction | Child Development Disorders, Pervasive - pathology | Humans | Child Development Disorders, Pervasive - physiopathology | DNA Copy Number Variations - genetics | Case-Control Studies | Europe - ethnology | Child Development Disorders, Pervasive - genetics | Social Behavior | Child | Cell Movement | Cytoprotection | Confidence intervals | Autism | Genetics | Genes | Quality control | Reproduction | Disorders | Disabilities | Arrays | Loci | Index Medicus | Genetic Predisposition to Disease | Europe | Gene Dosage | DNA Copy Number Variations | Life Sciences | Child Development Disorders, Pervasive | Pervasive | Child Development Disorders | Ethnology | Physiopathology | Pathology | Psykiatri | Psychiatry
Journal Article