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Nature (London), ISSN 0028-0836, 02/2017, Volume 542, Issue 7642, pp. 433 - 438
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Prevalence | Humans | Middle Aged | Parents | Male | Mi-2 Nucleosome Remodeling and Deacetylase Complex - genetics | Developmental Disabilities - genetics | Casein Kinase II - genetics | Autoantigens - genetics | Young Adult | ras GTPase-Activating Proteins - genetics | Adult | Female | Child | CDC2 Protein Kinase - genetics | Histone-Lysine N-Methyltransferase - genetics | Repressor Proteins - genetics | Sex Characteristics | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Mutation - genetics | Nerve Tissue Proteins - genetics | Sequence Analysis, DNA | Homeodomain Proteins - genetics | DEAD-box RNA Helicases - genetics | Exome - genetics | Phenotype | Myeloid-Lymphoid Leukemia Protein - genetics | Adolescent | Heredity - genetics | Protein Phosphatase 2C - genetics | Cohort Studies | Child development deviations | Genetic aspects | Genetic disorders | Developmental disabilities | Distribution | Genes | Families & family life | Births | Genomes | Mutation | Causality | Estimates | Age | Index Medicus | TRIO | MYT1L | EHMT1 | HNRNPU | SUV420H1 | COL4A3BP | SYNGAP1 | PPP2R1A | POGZ | EP300 | KCNH1 | SCN1A | MEF2C | CDKL5 | CSNK2A1 | DYRK1A | CASK | ALG13 | FOXP1 | KAT6B | TBL1XR1 | KAT6A | SCN8A | KCNQ2 | EEF1A2 | KCNQ3 | ADNP | PhenIcons | SET | KMT2A | ANKRD11 | STXBP1 | FOXG1 | ZC4H2 | ITPR1 | De novo mutation | Seizures | ZBTB18 | CREBBP | SMAD4 | PDHA1 | IQSEC2 | AUTS2 | BCL11A | BRAF | SMARCA2 | GRIN2B | MED13L | GNAO1 | CNOT3 | TCF4 | SCN2A | CDK13 | GABRB3 | SETD5 | KDM5B | Developmental Disease | DDX3X | CHD8 | PTEN | CHD4 | TCF20 | CTCF | CHD2 | WDR45 | SLC6A1 | MECP2 | CHAMP1 | KIF1A | Average Faces | MSL3 | PPP2R5D | SMC1A | ARID1B | DNM1 | CNKSR2 | PACS1 | WAC | ZMYND11 | AHDC1 | NFIX | SATB2 | HDAC8 | PPM1D | GNAI1 | PURA | PUF60 | NSD1 | Intellectual Disability | SLC35A2 | DYNC1H1 | NAA10 | USP9X | PTPN11 | GATAD2B | ASXL1 | KANSL1 | ASXL3 | CTNNB1 | QRICH1
Journal Article
Annals of neurology, ISSN 0364-5134, 2018, Volume 83, Issue 6, pp. 1105 - 1124
Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Muscle Proteins - genetics | Phenotype | Cardiomyopathy, Dilated - congenital | Humans | Connectin - genetics | Female | Male | Muscle, Skeletal - pathology | Mutation - genetics | Protein Isoforms - genetics | Heart | Impact prediction | Connectin | Transcription | Creatine kinase | Identification methods | Cardiomyopathy | Pathogenesis | Exons | Creatine | Proteins | Mitochondria | Hypotonia | Scoliosis | Medical imaging | Congenital diseases | Fetuses | Abnormalities | Muscles | Disease control | Patients | Skeletal muscle | Cores | Musculoskeletal system | Magnetic resonance imaging | Dilated cardiomyopathy | Isoforms | Ophthalmoplegia | Diagnostic systems | Mutation | Biotechnology | Biochemistry, Molecular Biology | Cardiomyopathy, Dilated | Life Sciences | Muscle Proteins | Protein Isoforms | Genetics | Muscle, Skeletal | Molecular biology | Human genetics
Journal Article
American journal of human genetics, ISSN 0002-9297, 01/2018, Volume 102, Issue 1, pp. 175 - 187
KDM5B | histone lysine methyltransferase | KMT2C | histone lysine demethylase | KMT2B | Developmental disorders | chromatin remodeling | KMT5B | ASH1L | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Histone-Lysine N-Methyltransferase - genetics | Developmental Disabilities - enzymology | Humans | Adolescent | Child, Preschool | Female | Male | Developmental Disabilities - genetics | Mutation | Child | Histone Demethylases - genetics | Haploinsufficiency | Methyltransferases | Lysine | Analysis | Genomics | Cytogenetics | Methylation | Pediatric neurology | Index Medicus | Report
Journal Article
Archives of disease in childhood, ISSN 0003-9888, 06/2019, Volume 104, Issue Suppl 3, p. A170
Pediatrics | Marfan's syndrome | Ehlers-Danlos syndrome | Arthralgia | Rheumatology | Childrens health | Management | Patients | Pain | Collagen | Skin | Anxiety | Diagnosis
Journal Article
Nature (London), ISSN 0028-0836, 10/2020, Volume 586, Issue 7831, pp. 757 - 3
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Discovery and exploration | Medical research | Usage | Genetic disorders | Analysis | Medicine, Experimental | Medical statistics | Evidence-based medicine | Proteins | Health care | Genotype & phenotype | Genes | Genomics | Disorders | Gender differences | Diagnostic systems | Mutation | Statistical tests | Index Medicus
Journal Article
Epilepsia (Copenhagen), ISSN 0013-9580, 01/2020, Volume 61, Issue 1, pp. e1 - e6
genetic | pyridoxine | metabolic | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Neuroimaging | Neonates | Inborn errors of metabolism | Epilepsy | EEG | Cognition | Pyridoxine | Antiepileptic agents | Hemispheric laterality | Convulsions & seizures | Magnetic resonance imaging | Children | Diagnosis | Vitamin B6 | Metabolic disorders | Seizures | Index Medicus
Journal Article
Addiction (Abingdon, England), ISSN 0965-2140, 08/2017, Volume 112, Issue 8, pp. 1345 - 1357
temperament and character inventory | meta‐analysis | personality | systematic review | treatment outcome | Alcoholism | meta-analysis | Life Sciences & Biomedicine | Substance Abuse | Psychiatry | Science & Technology | Treatment Outcome | Personality | Personality Inventory - statistics & numerical data | Alcoholism - psychology | Alcoholism - therapy | Humans | Medical research | Care and treatment | Patient outcomes | Medicine, Experimental | Substance abuse | Drinking of alcoholic beverages | Relapse | Clinical trials | Systematic review | Retention | Evidence-based medicine | Clinical outcomes | Alcohol use | Alcohols | Confidence intervals | Personality tests | Personality traits | Questionnaires | Reinforcement | Longitudinal studies | Novelty | Consumption | Alcohol related disorders | Clinical research | Patients | Temperament | Meta-analysis | Missing data | Correlation analysis | Index Medicus
Journal Article