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American journal of human genetics, ISSN 0002-9297, 05/2019, Volume 104, Issue 5, pp. 948 - 956
epilepsy | CACNA1B | epilepsy-dyskinesia | developmental and epileptic encephalopathy (DEE) | yes | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Calcium Channels, N-Type - genetics | Calcium - metabolism | Humans | Child, Preschool | Dyskinesias - pathology | Infant | Male | Loss of Heterozygosity | Synaptic Transmission | Pedigree | Adolescent | Epilepsy - genetics | Female | Mutation | Child | Epilepsy - pathology | Dyskinesias - genetics | Allelomorphism | Gene mutations | Epilepsy | Development and progression | Genetic aspects | Research | Risk factors | Index Medicus | Report
Journal Article
The lancet oncology, ISSN 1470-2045, 2011, Volume 12, Issue 1, pp. 49 - 55
Hematology, Oncology and Palliative Medicine | Life Sciences & Biomedicine | Oncology | Science & Technology | Antigens, Neoplasm - genetics | Promoter Regions, Genetic | Sequence Deletion | Cell Adhesion Molecules - genetics | Colorectal Neoplasms - genetics | Humans | Middle Aged | Endometrial Neoplasms - etiology | Male | Risk | MutS Homolog 2 Protein - genetics | Epithelial Cell Adhesion Molecule | Colorectal Neoplasms - etiology | Endometrial Neoplasms - genetics | Gene Deletion | Adolescent | Adult | Female | Aged | Cohort Studies | Prevention | Molecular genetics | Endometrial cancer | Gene mutations | Oncology, Experimental | Research | Universities and colleges | Biometry | Cancer | Index Medicus
Journal Article
American journal of human genetics, ISSN 0002-9297, 2008, Volume 82, Issue 2, pp. 304 - 319
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | General aspects. Genetic counseling | Medical genetics | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Eye - metabolism | Bone Morphogenetic Protein 4 | Polydactyly - genetics | Humans | Electrophysiology | Hedgehog Proteins - metabolism | DNA Primers - genetics | Signal Transduction - genetics | Bone Morphogenetic Proteins - metabolism | Eye - embryology | In Situ Hybridization | Hedgehog Proteins - genetics | Chromosome Aberrations | Nervous System Malformations - genetics | Bone Morphogenetic Proteins - genetics | Chromosomes, Human, Pair 14 - genetics | Frameshift Mutation - genetics | Cohort Studies | Child development deviations | Bone morphogenetic proteins | Genetic aspects | Research | Structure | Developmental disabilities | Index Medicus
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
Health psychology, ISSN 0278-6133, 9/2009, Volume 28, Issue 5, pp. 554 - 562
stress | catecholamines | academic stressors | stress interventions | self-affirmation | Psychology, Clinical | Psychology | Social Sciences | Fundamental and applied biological sciences. Psychology | Biological and medical sciences | Psychology. Psychoanalysis. Psychiatry | Personality. Affectivity | Stress | Psychology. Psychophysiology | Adaptation, Psychological - physiology | Self Efficacy | Humans | Anxiety - psychology | Epinephrine - urine | Norepinephrine - urine | Self-Assessment | Male | Sympathetic Nervous System - physiopathology | Stress, Psychological - psychology | Self Care - psychology | Young Adult | Anxiety - therapy | Arousal - physiology | Students - psychology | Adolescent | Internal-External Control | Writing | Female | Achievement | Anxiety - urine | Stress, Psychological - physiopathology | Physiological aspects | Influence | Nervous system | Research | Self-affirmation (Psychology) | Stress (Psychology) | Index Medicus
Journal Article
American journal of medical genetics. Part A, ISSN 1552-4825, 11/2020, Volume 182, Issue 11, pp. 2508 - 2520
Journal Article
1995, ISBN 1559634162, viii, 278
Book
BMC nephrology, ISSN 1471-2369, 10/2018, Volume 19, Issue 1, pp. 301 - 301
UMOD | Prevalence | Autosomal dominant tubulointerstitial kidney disease | Genetic kidney disease | Life Sciences & Biomedicine | Urology & Nephrology | Science & Technology | End-stage renal disease | Kidneys | Polycystic kidney | Gout | Genomes | Family medical history | Patients | Genetic screening | Proteins | Databases | Questionnaires | Population | Mutation | Kidney diseases | Saliva | Proteinuria
Journal Article
Nephrology, dialysis, transplantation, ISSN 0931-0509, 06/2016, Volume 31, Issue 6, pp. 961 - 970