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Neurogenetics, ISSN 1364-6745, 2/2013, Volume 14, Issue 1, pp. 71 - 75
Human Genetics | Neurosciences | MEF2C | Biomedicine | Intellectual disability | Hand stereotypies | Molecular Medicine | Mental retardation | Clinical Neurology | Genetics & Heredity | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Strabismus - complications | Humans | Child, Preschool | Molecular Sequence Data | Intellectual Disability - complications | Male | Developmental Disabilities - genetics | Strabismus - genetics | Epilepsy - epidemiology | Intellectual Disability - genetics | DNA Mutational Analysis | Base Sequence | Epilepsy - genetics | Female | Child | MEF2 Transcription Factors | Intellectual Disability - epidemiology | Genetic Association Studies | Myogenic Regulatory Factors - genetics | MADS Domain Proteins - genetics | Epilepsy - complications | Strabismus - epidemiology | Developmental Disabilities - epidemiology | Point Mutation | Phenotype | Adolescent | Developmental Disabilities - complications | Cohort Studies | Genetic aspects | Gene mutations | Mental illness | Epilepsy | Genotype & phenotype | Mutation | Genes | Index Medicus
Journal Article
Genetics in medicine, ISSN 1098-3600, 2019, Volume 21, Issue 9, pp. 2025 - 2035
cholesterol pathway | early-onset epileptic encephalopathy | alopecia | LSS | intellectual disability | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Alopecia - complications | Humans | Child, Preschool | Infant | Intellectual Disability - complications | Male | Developmental Disabilities - genetics | Cholesterol - genetics | Squalene - analogs & derivatives | Squalene - metabolism | Intellectual Disability - genetics | Developmental Disabilities - pathology | Alopecia - genetics | Epilepsy - genetics | Female | Lanosterol - metabolism | Child | Intramolecular Transferases - genetics | Intellectual Disability - pathology | Lanosterol - genetics | Cholesterol - metabolism | Alopecia - pathology | Epilepsy - complications | Whole Exome Sequencing | Phenotype | Pedigree | Age of Onset | Mutation | Developmental Disabilities - complications | Epilepsy - pathology | Biosynthesis | Alopecia | Baldness | Intellectual disabilities | Cholesterol | Index Medicus | Life Sciences | Human health and pathology | Food and Nutrition | Dermatology
Journal Article
Nature genetics, ISSN 1061-4036, 2014, Volume 46, Issue 5, pp. 503 - 509
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Nervous System Malformations - immunology | Humans | Models, Molecular | Molecular Sequence Data | Signal Transduction - genetics | Interferon Type I - immunology | Mutation - genetics | Sequence Analysis, DNA | Interferon-Induced Helicase, IFIH1 | Microsatellite Repeats - genetics | Autoimmune Diseases of the Nervous System - immunology | DEAD-box RNA Helicases - genetics | Exome - genetics | Phenotype | Analysis of Variance | Base Sequence | Autoimmune Diseases of the Nervous System - genetics | HEK293 Cells | Electrophoretic Mobility Shift Assay | Nervous System Malformations - genetics | Spectrum Analysis | DEAD-box RNA Helicases - chemistry | Real-Time Polymerase Chain Reaction | Cell receptors | Gene mutations | Interferon | Genetic aspects | Genetic regulation | Health aspects | Proteins | Studies | Genotype & phenotype | Hospitals | Biomedical research | Disease | Womens health | Pathogenesis | Families & family life | Genomes | Mutation | Index Medicus
Journal Article
Brain (London, England : 1878), ISSN 0006-8950, 6/2009, Volume 132, Issue 6, pp. 1589 - 1600
Hereditary spastic paraplegia | Autosomal recessive spastic paraplegia | CYP7B1 | Cholesterol metabolism | SPG5 | Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Neurology | Biological and medical sciences | Medical sciences | Diseases of striated muscles. Neuromuscular diseases | Spastic Paraplegia, Hereditary - genetics | Species Specificity | Humans | Middle Aged | Male | Genes, Recessive | Mutation, Missense - genetics | Genetic Variation | Young Adult | Magnetic Resonance Imaging | Point Mutation | Animals | Cytochrome P450 Family 7 | Pedigree | Base Sequence | Adolescent | Brain - pathology | Adult | Female | Heterozygote | Aged | Spastic Paraplegia, Hereditary - pathology | Steroid Hydroxylases - genetics | Codon, Nonsense - genetics | Index Medicus | Abridged Index Medicus
Journal Article
Journal of human genetics, ISSN 1434-5161, 09/2016, Volume 61, Issue 9, pp. 835 - 838
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Gastroesophageal Reflux - diagnosis | Humans | Genotype | Infant | Developmental Disabilities - genetics | Gastroesophageal Reflux - genetics | Transcription Factors - genetics | Homeodomain Proteins - genetics | Syndrome | Exome | Phenotype | DNA Mutational Analysis | Facies | Female | High-Throughput Nucleotide Sequencing | Mutation | Developmental Disabilities - diagnosis | Index Medicus | Life Sciences | Human health and pathology | Food and Nutrition | Hépatology and Gastroenterology
Journal Article
Journal of human genetics, ISSN 1434-5161, 07/2019, Volume 64, Issue 7, pp. 689 - 694
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Genetic Association Studies | Cathepsin C - chemistry | Humans | Cathepsin C - genetics | Male | Mutation, Missense | Aggressive Periodontitis - genetics | Whole Exome Sequencing | Homozygote | Turkey | Aggressive Periodontitis - diagnostic imaging | Adolescent | Adult | Female | Child | Phenotypes | Transcription factors | Cysteine proteinase | Teeth | Cytotoxicity | Genomes | Inflammation | Proteins | Periodontitis | Dipeptidyl-peptidase I | Dentition | Mutation | Bioinformatics | Protein structure | Age | Genotypes | Index Medicus
Journal Article
Journal of allergy and clinical immunology, ISSN 0091-6749, 2015, Volume 136, Issue 5, pp. 1337 - 1345
Allergy and Immunology | phenotype | proline-serine-threonine phosphatase-interacting protein 1 | S100 proteins | calprotectin | myeloid-related protein 8/14 | autoinflammation | pyogenic arthritis, pyoderma gangrenosum, and acne syndrome | Hyperzincemia and hypercalprotectinemia | zinc | genotype | pyogenic arthritis | Journal Article | Research Support, N.I.H., Extramural | Research Support, N.I.H., Intramural | Research Support, Non-U.S. Gov't | pyoderma gangrenosum, and acne syndrome | Allergy | Immunology | Life Sciences & Biomedicine | Science & Technology | Phosphorylation | Protein Binding - genetics | Calgranulin A - metabolism | Cytoskeletal Proteins - genetics | Humans | Leukocyte L1 Antigen Complex - metabolism | Protein Multimerization | Male | Calgranulin A - genetics | Metal Metabolism, Inborn Errors - immunology | Mutation, Missense - genetics | Young Adult | Cytoskeletal Proteins - metabolism | Female | Child | Metal Metabolism, Inborn Errors - genetics | Alarmins - genetics | Cytokines - metabolism | Alarmins - metabolism | Genotype | Pyrin | Phenotype | Protein Interaction Maps - genetics | Adaptor Proteins, Signal Transducing - genetics | Adolescent | Leukocyte L1 Antigen Complex - genetics | Adaptor Proteins, Signal Transducing - metabolism | Proline | Phosphatases | Hospitals | Analysis | Disease | Cytokines | Laboratories | Acne | Mortality | Arthritis | Inflammation | Phosphatase | Inflammatory diseases | Proteins | Genotype & phenotype | Skin | Mutation | Index Medicus | Abridged Index Medicus | myeloid-related protein 8 | pyoderma gangrenosum | and acne syndrome
Journal Article
European journal of medical genetics, ISSN 1769-7212, 2014, Volume 58, Issue 1, pp. 47 - 50
Medical Education | Short stature | Sprengel deformity | Intellectual disability | Klippel-Feil syndrome | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Paired Box Transcription Factors - genetics | Cervical Vertebrae - abnormalities | Growth Differentiation Factor 6 - genetics | Scapula - abnormalities | Seizures - genetics | Aggression | Humans | Obsessive Behavior - genetics | Neck - abnormalities | Transcription Factors - genetics | Syndrome | Intellectual Disability - genetics | Klippel-Feil Syndrome - genetics | Congenital Abnormalities - genetics | Growth Differentiation Factor 3 - genetics | Shoulder Joint - abnormalities | Adolescent | Body Height | Female | Learning Disorders - genetics | Child | Stature, Short | Analysis | Index Medicus
Journal Article
Journal of medical genetics, ISSN 0022-2593, 11/2014, Volume 51, Issue 11, pp. 724 - 736
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Molecular Diagnostic Techniques - methods | Humans | Child, Preschool | Infant | Male | DNA Mutational Analysis - methods | Intellectual Disability - genetics | Young Adult | Intellectual Disability - diagnosis | Adolescent | Adult | Female | High-Throughput Nucleotide Sequencing - methods | Child | Sequence Analysis, DNA - methods | Infant, Newborn | Index Medicus | mutation | causative | 1506 | intellectual disability | high-throughput sequencing | autism | Cognitive and Behavioural Genetics
Journal Article