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American journal of roentgenology (1976), ISSN 0361-803X, 1995, Volume 164, Issue 3, pp. 705 - 707
Life Sciences & Biomedicine | Radiology, Nuclear Medicine & Medical Imaging | Science & Technology | Cardiovascular system | Radiodiagnosis. Nmr imagery. Nmr spectrometry | Biological and medical sciences | Investigative techniques, diagnostic techniques (general aspects) | Medical sciences | Aorta, Thoracic - abnormalities | Magnetic Resonance Imaging | Bronchial Diseases - etiology | Tracheal Stenosis - diagnosis | Constriction, Pathologic | Humans | Female | Infant | Male | Bronchial Diseases - diagnosis | Tracheal Stenosis - etiology | Index Medicus | Abridged Index Medicus
Journal Article
Public administration (London), ISSN 0033-3298, 03/2019, Volume 97, Issue 1, pp. 226 - 230
Journal Article
Nature communications, ISSN 2041-1723, 02/2019, Volume 10, Issue 1, pp. 1 - 4
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Nature communications, ISSN 2041-1723, 05/2019, Volume 10, Issue 1, pp. 2079 - 2079
Journal Article
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
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
04/2018, Advances in Oto-Rhino-Laryngology, ISBN 3318063142, Volume 81, 14
Book Chapter
American journal of human genetics, ISSN 0002-9297, 06/2019, Volume 104, Issue 6, pp. 1210 - 1222
KMT2E | epilepsy | H3K4 methylation | global developmental delay | neurodevelopmental disorder | intellectual disability | epileptic encephalopathy | autism | yes | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Humans | Child, Preschool | Infant | Male | DNA-Binding Proteins - genetics | Epilepsy - etiology | Neurodevelopmental Disorders - pathology | Haploinsufficiency | Genetic Variation | Young Adult | Phenotype | Pedigree | Adolescent | Adult | Female | Heterozygote | Child | Epilepsy - pathology | Neurodevelopmental Disorders - etiology | Genetic variation | Epilepsy | Nervous system | Genetic aspects | Degeneration | Research | Risk factors | Index Medicus | Life Sciences | Genetics | Human genetics | Report | Medicin och hälsovetenskap
Journal Article
Intensive care medicine, ISSN 0342-4642, 2/2011, Volume 37, Issue 2, pp. 272 - 283
Pediatrics | Pain Medicine | Pneumology/Respiratory System | Emergency Medicine | Medicine & Public Health | Community acquired pneumonia | Intensive / Critical Care Medicine | Pandemic (H1N1)v influenza A infection | Corticosteroid therapy | Anesthesiology | ARDS | Life Sciences & Biomedicine | Critical Care Medicine | General & Internal Medicine | Science & Technology | Biological and medical sciences | Intensive care medicine | Emergency and intensive care: infection, septic shock | Medical sciences | Anesthesia. Intensive care medicine. Transfusions. Cell therapy and gene therapy | Severity of Illness Index | Intensive Care Units | Pandemics | Prospective Studies | Pneumonia - epidemiology | Humans | Middle Aged | Europe - epidemiology | Male | Adrenal Cortex Hormones - therapeutic use | Influenza A Virus, H1N1 Subtype - drug effects | Adrenal Cortex Hormones - adverse effects | Likelihood Functions | Registries - statistics & numerical data | Survival Analysis | Adult | Female | Influenza, Human - drug therapy | Adrenal Cortex Hormones - administration & dosage | Cross Infection - epidemiology | Dosage and administration | Corticosteroids | Research | Diagnosis | Drug therapy | Swine influenza | Index Medicus | Original
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