UofT Libraries is getting a new library services platform in January 2021.
Learn more about the change.
Search Articles
JAMA pediatrics, ISSN 2168-6203, 10/2017, Volume 171, Issue 12, pp. e173438 - e173438
Life Sciences & Biomedicine | Pediatrics | Science & Technology | Critical Care - methods | Infant Care - methods | Humans | Genetic Diseases, Inborn - genetics | Genetic Counseling - methods | Infant | Intensive Care Units, Pediatric | Genetic Diseases, Inborn - therapy | Whole Exome Sequencing - methods | Exome | Texas | Adult | Disease Management | Retrospective Studies | Genetic Diseases, Inborn - diagnosis | Infant, Newborn | Length of Stay - statistics & numerical data | Index Medicus | Abridged Index Medicus
Journal Article
The Lancet (British edition), ISSN 0140-6736, 02/2019, Volume 393, Issue 10173, pp. 747 - 757
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Fetus - abnormalities | Congenital Abnormalities - epidemiology | Fetus - diagnostic imaging | Prospective Studies | Humans | Parents | Perinatal Death - etiology | Male | DNA Copy Number Variations - genetics | Whole Exome Sequencing - methods | Abnormal Karyotype - embryology | Congenital Abnormalities - diagnosis | Pregnancy | Abortion, Spontaneous - epidemiology | Congenital Abnormalities - genetics | Nuchal Translucency Measurement | Stillbirth - epidemiology | Abnormal Karyotype - statistics & numerical data | Female | Live Birth - epidemiology | Fetal Development - genetics | Abortion, Eugenic - statistics & numerical data | Infant, Newborn | Whole Exome Sequencing - statistics & numerical data | Ultrasound imaging | Pregnant women | Heart | Intellectual disabilities | Copy number | Genes | Disorders | Prenatal development | Aneuploidy | Genomes | Gestation | Microcephaly | Genetic screening | Gene sequencing | Disability | Proteins | Parents & parenting | Ultrasonic imaging | Next-generation sequencing | Scoliosis | Heart diseases | Ultrasound | Deoxyribonucleic acid--DNA | Phenotypes | Congenital diseases | Research & development--R&D | Fetuses | Abnormalities | Birth defects | Heredity | Hearing impairment | Coronary artery disease | Genetic variance | DNA microarrays | Gene frequency | Diagnostic systems | Cardiovascular diseases | Anomalies | Index Medicus | Abridged Index Medicus
Journal Article
Journal of allergy and clinical immunology, ISSN 0091-6749, 2013, Volume 131, Issue 5, pp. 1376 - 1383.e3
Allergy and Immunology | caspase recruitment domain 11 (CARD11) | B cell | infection | nuclear factor κB | Whole-exome sequencing | systematic variant categorization | T cell | severe combined immunodeficiency | Allergy | Immunology | Life Sciences & Biomedicine | Science & Technology | Fundamental and applied biological sciences. Psychology | Fundamental immunology | Immunopathology | Biological and medical sciences | Medical sciences | Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis | Amino Acid Sequence | Cell Line | Jurkat Cells | Humans | CARD Signaling Adaptor Proteins - deficiency | Molecular Sequence Data | Infant | Guanylate Cyclase - antagonists & inhibitors | Severe Combined Immunodeficiency - immunology | Codon, Nonsense | CARD Signaling Adaptor Proteins - genetics | CARD Signaling Adaptor Proteins - antagonists & inhibitors | Homozygote | Severe Combined Immunodeficiency - complications | Severe Combined Immunodeficiency - genetics | Guanylate Cyclase - deficiency | Pedigree | Female | Guanylate Cyclase - genetics | Severe combined immunodeficiency | Analysis | Genomics | Flow cytometry | Laboratories | Colleges & universities | T cell receptors | Genomes | Kinases | Gene expression | Patients | Proteins | Ethics | Signal transduction | Lymphocytes | Mutation | Age | Deoxyribonucleic acid--DNA | Index Medicus | Abridged Index Medicus
Journal Article
The New England journal of medicine, ISSN 0028-4793, 06/2019, Volume 380, Issue 25, pp. 2478 - 2480
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Exome | Phenotype | Humans | Genetic Diseases, Inborn - genetics | Mutation | Genetic Diseases, Inborn - diagnosis | Genetic Testing - methods | Sequence Analysis, DNA - methods | Whole Exome Sequencing | Genetic counseling | Laboratories | Patients | Genomics | Index Medicus | Abridged Index Medicus
Journal Article
Journal of allergy and clinical immunology, ISSN 0091-6749, 2016, Volume 138, Issue 4, pp. 957 - 969
Allergy and Immunology | targeted sequencing | primary immunodeficiency | Next-generation sequencing | whole-exome sequencing | whole-genome sequencing | Allergy | Immunology | Life Sciences & Biomedicine | Science & Technology | Genetic Variation | Exome - genetics | Humans | Immunologic Deficiency Syndromes - genetics | Genetic Diseases, Inborn | High-Throughput Nucleotide Sequencing | Genome, Human - genetics | Genetic research | Genomes | Nucleotide sequencing | Genomics | DNA sequencing | Genetic polymorphisms | Studies | Hypotheses | Parents & parenting | Disease | Genes | Quality | Editing | Fibroblasts | Mutation | Index Medicus | Abridged Index Medicus | Targeted sequencing | Whole exome sequencing | Whole genome sequencing | Next generation sequencing | Primary immunodeficiency
Journal Article
Nature communications, ISSN 2041-1723, 01/2017, Volume 8, Issue 1, pp. 14121 - 14121
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Nasopharyngeal Neoplasms - genetics | Nasopharyngeal Neoplasms - metabolism | Viral Matrix Proteins - genetics | Cell Proliferation | Herpesvirus 4, Human - genetics | Humans | NF-KappaB Inhibitor alpha - genetics | NF-kappa B - metabolism | Exome | Nasopharyngeal Neoplasms - physiopathology | Deubiquitinating Enzyme CYLD - metabolism | TNF Receptor-Associated Factor 3 - genetics | Epstein-Barr Virus Infections - genetics | Viral Matrix Proteins - metabolism | Epstein-Barr Virus Infections - physiopathology | Nasopharyngeal Carcinoma | Epstein-Barr Virus Infections - virology | Signal Transduction | Deubiquitinating Enzyme CYLD - genetics | TNF Receptor-Associated Factor 3 - metabolism | Carcinoma - physiopathology | Whole Genome Sequencing | NF-kappa B - genetics | NF-KappaB Inhibitor alpha - metabolism | Carcinoma - genetics | Carcinoma - metabolism | Mutation | Genome, Human | Herpesvirus 4, Human - metabolism | Epstein-Barr Virus Infections - metabolism | Index Medicus
Journal Article
Nature (London), ISSN 0028-0836, 06/2019, Volume 570, Issue 7759, pp. 71 - 76
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Genome-Wide Association Study | Diabetes Mellitus, Type 2 - genetics | Gene Frequency | Humans | Decision Support Techniques | Male | Case-Control Studies | Mice, Knockout | Whole Exome Sequencing | Exome - genetics | Animals | Female | Mice | Type 2 diabetes | Genetic research | Genetic aspects | Research | Exome sequencing | Sequences | Disease | Pathogenesis | Genes | Diabetes mellitus | Hispanic Americans | Health risks | Genomes | Epidemiology | Disease control | Studies | Proteins | Genetic variance | Gene frequency | Alleles | Heritability | Gene loci | Diabetes | Diabetes mellitus (non-insulin dependent) | Power | Index Medicus | Clinical Medicine | Medicinsk genetik | Basic Medicine | Medical Genetics | Endokrinologi och diabetes | Medical and Health Sciences | Medicin och hälsovetenskap | Medicinska och farmaceutiska grundvetenskaper | Mus | Klinisk medicin | Endocrinology and Diabetes
Journal Article