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Nature medicine, ISSN 1078-8956, 06/2019, Volume 25, Issue 6, pp. 911 - 919
Biochemistry & Molecular Biology | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Cell Biology | Research & Experimental Medicine | Rare Diseases - genetics | Acid Ceramidase - genetics | Rare Diseases - blood | Humans | Child, Preschool | Male | Case-Control Studies | Potassium Channels - genetics | RNA - genetics | Whole Exome Sequencing | Genetic Variation | Sequence Analysis, RNA | RNA Splicing - genetics | Female | Oxidoreductases Acting on CH-CH Group Donors - genetics | Models, Genetic | Mutation | Child | RNA - blood | Cohort Studies | Disease | Splicing | Muscles | Ribonucleic acid--RNA | Gene expression | Disease control | Blood | Gene sequencing | Diseases | Mitochondria | Biopsy | Diagnostic software | Fibroblasts | Diagnostic systems | Index Medicus
Journal Article
The New England journal of medicine, ISSN 0028-4793, 11/2018, Volume 379, Issue 22, pp. 2131 - 2139
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Rare Diseases - genetics | Diagnosis, Differential | United States | Drosophila | Humans | Rare Diseases - diagnosis | Male | Sequence Analysis, DNA | Syndrome | Exome | National Institutes of Health (U.S.) | Animals | Health Care Costs - statistics & numerical data | Adult | Female | Models, Animal | Genetic Testing - economics | Child | Health care | Metabolomics | Genetic disorders | Teams | Genomes | Diagnosis | Medical diagnosis | Patients | Genetic screening | Index Medicus | Abridged Index Medicus
Journal Article
3.
The shape of change
: essays in early modern literature and La Fontaine in honor of David Lee Rubin
2002, Faux titre, ISBN 9042014490, Volume 223., x, 348
Book
American journal of human genetics, ISSN 0002-9297, 10/2019, Volume 105, Issue 4, pp. 854 - 868
cell-cell adhesion | CDH2 | ACOG | N-cadherin | eye defects | genital defects | cardiac defects | corpus callosum | intellectual disability | Care and treatment | Cell adhesion | Nervous system | Degeneration | Genetic aspects | Research | Risk factors | Membrane proteins | Life Sciences | Cellular Biology | Human health and pathology | Report
Journal Article
Genetics in medicine, ISSN 1098-3600, 01/2019, Volume 21, Issue 1, pp. 161 - 172
Rare diseases | Genome sequencing | Undiagnosed diseases | Exome sequencing | Phenotyping | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Genetic Predisposition to Disease | Genomics | Humans | Male | Developmental Disabilities - genetics | Sequence Analysis, DNA | Whole Exome Sequencing - methods | Whole Genome Sequencing | Developmental Disabilities - epidemiology | Exome - genetics | Phenotype | Female | Child | Developmental Disabilities - diagnosis | Bioinformatics | Index Medicus | whole genome sequencing | rare diseases | undiagnosed diseases | Whole exome sequencing | phenotyping
Journal Article
Genetics in medicine, ISSN 1098-3600, 04/2018, Volume 20, Issue 4, pp. 464 - 469
infantile neuroaxonal dystrophy | infantile systemic hyalinosis | leukoencephalopathy with vanishing white matter | Undiagnosed Diseases Network | whole-exome sequencing | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Rare Diseases - genetics | Genetic Predisposition to Disease | Molecular Diagnostic Techniques - methods | Humans | Genetic Diseases, Inborn - genetics | Rare Diseases - diagnosis | Child, Preschool | Genetic Association Studies - methods | Genotype | Infant | Whole Exome Sequencing | Whole Genome Sequencing | Exome | Phenotype | Biopsy | Alleles | Female | Molecular Diagnostic Techniques - standards | Polymorphism, Single Nucleotide | Child | Genetic Diseases, Inborn - diagnosis | Index Medicus | EIF2B5 | undiagnosed diseases network | ANTXR2 | PLA2G6 | whole exome sequencing
Journal Article
American journal of human genetics, ISSN 0002-9297, 02/2017, Volume 100, Issue 2, pp. 185 - 192
rare diseases | diagnosis | National Institutes of Health | high-throughput nucleotide sequencing | phenotyping | cooperative behavior | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | National Institutes of Health (U.S.) | Rare Diseases - genetics | Metabolomics | Phenotype | United States | Humans | Information Dissemination - methods | Rare Diseases - diagnosis | Genotype | Genotyping Techniques | Sequence Analysis, DNA | Technology application | Diagnosis | Rare diseases | Usage | Genetic aspects | Research | Nucleotide sequencing | DNA sequencing | Social networks | Government agencies | Disease management | Medical diagnosis | Precision | Best practice | Index Medicus
Journal Article