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European journal of human genetics : EJHG, ISSN 1018-4813, 03/2017, Volume 25, Issue 6, pp. 662 - 668
Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | Genetic Counseling - psychology | Attitude | Social Behavior | Humans | Cognition | Genetic Testing - ethics | Emotions | Literature reviews | Population studies | Cognitive ability | Index Medicus | Review
Journal Article
Nature (London), ISSN 0028-0836, 10/2017, Volume 550, Issue 7675, pp. 249 - 254
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | RNA-Binding Proteins - genetics | Species Specificity | Adenosine Deaminase - genetics | Adenosine Deaminase - metabolism | RNA Editing - genetics | Humans | Genotype | Male | Nuclear Proteins - metabolism | Transcriptome - genetics | Organ Specificity - genetics | Primates - genetics | Animals | Proteolysis | HEK293 Cells | Female | Spatio-Temporal Analysis | Mice | Muscles - metabolism | RNA-Binding Proteins - metabolism | Genetic research | Genetic aspects | Research | RNA processing | Mammals | Genetic regulation | Enzymes | Brain | Post-transcription | RNA editing | Adenosine | Transcription | Muscles | Principal components analysis | Genomes | Nucleotides | Gene expression | Tissues | Ribonucleic acid--RNA | Proteins | Musculoskeletal system | Index Medicus
Journal Article
Journal of inherited metabolic disease, ISSN 0141-8955, 11/2020, Volume 43, Issue 6, pp. 1333 - 1348
epilepsy | N‐linked glycosylation | whole exome sequencing | congenital disorders of glycosylation | Transferrin | Biochemical analysis | Ketogenesis | Epilepsy | Homology | Glycosylation | Oligosaccharides | High fat diet | Low carbohydrate diet | Adrenocorticotropic hormone | Encephalopathy | Asparagine | Uridine | Prednisolone | Index Medicus | Medicinsk genetik | Basic Medicine | Medical Genetics | Neurosciences | Medical and Health Sciences | Medicin och hälsovetenskap | Medicinska och farmaceutiska grundvetenskaper | N-linked glycosylation | Neurovetenskaper
Journal Article
Genetics in medicine, ISSN 1098-3600, 2018, Volume 21, Issue 7, pp. 1585 - 1593
Mendelian disease diagnosis | medical genetics | natural language processing | prioritized disease phenotypes | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Phenotype | Algorithms | Humans | Computational Biology | Medical Records | Natural Language Processing | Genetic Diseases, Inborn - diagnosis | Testing laboratories | Medical diagnosis | Genotype & phenotype | Index Medicus
Journal Article
Human mutation, ISSN 1059-7794, 05/2018, Volume 39, Issue 5, pp. 666 - 675
RERE | CHARGE syndrome | 1p36 deletion syndrome | NEDBEH | CHD7 | genotype–phenotype correlations | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Young Adult | Carrier Proteins - genetics | Genetic Association Studies | Humans | Adolescent | Fatal Outcome | Child, Preschool | Female | Infant | Male | Mutation - genetics | Decision-making | Medical research | Genetic disorders | Histidine | Gene mutations | Analysis | Medicine, Experimental | Genetic aspects | Congenital heart disease | Glutamate | Glutamic acid | Phenotypes | Decision making | Data processing | Neurodevelopmental disorders | Hearing loss | Haploinsufficiency | Genotype & phenotype | Arginine | Mutation | Genotypes | Index Medicus | genotype-phenotype correlations
Journal Article
American journal of human genetics, ISSN 0002-9297, 10/2019, Volume 105, Issue 4, pp. 854 - 868
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Eye - pathology | Heart Defects, Congenital - genetics | Frameshift Mutation | Genitalia - pathology | Axons - pathology | Corpus Callosum - pathology | Humans | Heterozygote | Neurodevelopmental Disorders - genetics | Cadherins - genetics | Neurodevelopmental Disorders - pathology | Index Medicus
Journal Article
American journal of human genetics, ISSN 0002-9297, 06/2017, Volume 100, Issue 6, pp. 843 - 853
rare diseases | genetic diseases | Diopt | Geno2MP | ExAC | Zfin | variants of unknown significance | FlyBase | MGI | ClinVar | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Genetic Variation | Databases, Genetic | Software | Genome, Human | Humans | Molecular Sequence Annotation | Genetic research | Technology application | Research | Genetic variation | Index Medicus
Journal Article
Journal of general internal medicine : JGIM, ISSN 0884-8734, 6/2019, Volume 34, Issue 6, pp. 1058 - 1062
Internal Medicine | Sjogren’s syndrome | amyloidosis | Medicine & Public Health | inclusion body myositis | immunophenotyping | Health Care Sciences & Services | Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Medical colleges | Myositis | Amyloidosis | Health care | Sjogren's syndrome | Weight loss | Muscles | Chains | Body weight loss | Inflammation | Medical diagnosis | Older people | Eye (anatomy) | Dysphagia | Adults | Diagnosis | Autoimmune diseases | Myopathy | Index Medicus | Clinical Vignettes | Clinical Practice
Journal Article