UofT Libraries is getting a new library services platform in January 2021.
Learn more about the change.
Search Articles
JAMA : the journal of the American Medical Association, ISSN 0098-7484, 10/2014, Volume 312, Issue 18, pp. 1880 - 1887
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Biological and medical sciences | General aspects | Medical sciences | Rare Diseases - genetics | Humans | Rare Diseases - diagnosis | Child, Preschool | Infant | Male | Developmental Disabilities - genetics | Exome | Molecular Diagnostic Techniques | Adolescent | Adult | Female | Mutation | Child | Genetic Diseases, Inborn - diagnosis | Sequence Analysis, DNA - methods | Infant, Newborn | Technology application | Usage | Genetic disorders | Exome sequencing | Diagnosis | Risk factors | Genetic screening | Genotype & phenotype | Genomes | Molecular biology | Medical diagnosis | Index Medicus | Abridged Index Medicus
Journal Article
Genome Biology, ISSN 1474-7596, 03/2017, Volume 18, Issue 1, pp. 36 - 36
Ecology, Evolution, Behavior and Systematics | Germline mutation | Inversion | Neurodevelopmental disorders | Chromothripsis | Journal Article | Chromoanagenesis | Copynumber variation | Cell Biology | Autism | Whole-genome sequencing | Structural variation | Complex chromosomal rearrangement | Genetics | Genetics & Heredity | Life Sciences & Biomedicine | Biotechnology & Applied Microbiology | Science & Technology | Autism Spectrum Disorder - genetics | Genetic Predisposition to Disease | Gene Rearrangement | Humans | Chromosome Aberrations | High-Throughput Nucleotide Sequencing | Mutation | Genome, Human | Genomics - methods | Chromosome Inversion | Gene Order | Consortia | Breakpoints | Genomics | Genomes | Chromosome rearrangements | Chromosomes | Deoxyribonucleic acid--DNA | Cancer | Index Medicus
Journal Article
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
American journal of human genetics, ISSN 0002-9297, 03/2015, Volume 96, Issue 3, pp. 498 - 506
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Microcephaly - genetics | Humans | Child, Preschool | Histone Acetyltransferases - genetics | Male | Developmental Disabilities - genetics | Exome | Histones - genetics | Pedigree | Histone Acetyltransferases - metabolism | Female | Heterozygote | Acetylation | Histones - metabolism | Mutation | Abnormalities, Multiple - genetics | Codon, Nonsense - genetics | Gene mutations | Causes of | Genetic research | Genetic aspects | Research | Microcephaly | Developmental delay | Enzymes | Chromatin | Congenital diseases | Cells | Developmental disabilities | Index Medicus | Report
Journal Article
Pediatric blood & cancer, ISSN 1545-5009, 03/2020, Volume 67, Issue 3, pp. e28103 - n/a
Pediatrics | Oncology | Life Sciences & Biomedicine | Hematology | Science & Technology | Prognosis | Humans | Hedgehog Proteins - metabolism | Infant | Male | Cerebellar Neoplasms - genetics | GTP-Binding Protein alpha Subunits, Gs - genetics | Hedgehog Proteins - genetics | Pedigree | Medulloblastoma - pathology | Germ-Line Mutation | Chromogranins - genetics | Female | Cerebellar Neoplasms - pathology | Medulloblastoma - genetics | Medical colleges | Medulloblastoma | Genetic aspects | Hedgehog protein | Mutation
Journal Article
Genetics in medicine, ISSN 1098-3600, 03/2020, Volume 22, Issue 3, pp. 490 - 499
Journal Article
European journal of human genetics : EJHG, ISSN 1018-4813, 10/2015, Volume 23, Issue 11, pp. 1473 - 1481
Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | Chromosome Deletion | Down Syndrome - pathology | Microcephaly - genetics | Humans | Protein-Serine-Threonine Kinases - genetics | Male | Abnormalities, Multiple - physiopathology | Haploinsufficiency | Intellectual Disability - genetics | Intellectual Disability - physiopathology | Phenotype | Protein-Tyrosine Kinases - genetics | Down Syndrome - genetics | Facies | Female | Microcephaly - physiopathology | Polymorphism, Single Nucleotide | Abnormalities, Multiple - genetics | Tyrosine | Phosphorylation | Phenotypes | Gait | Intellectual disabilities | Geffen, David | Microencephaly | Down's syndrome | Chromosome 21 | Speech | Ataxia | Genotypes | Seizures | Index Medicus
Journal Article
Human mutation, ISSN 1059-7794, 07/2019, Volume 40, Issue 7, pp. 908 - 925
glycoside | UDP‐galactose | congenital disorders of glycosylation | nucleotide sugar transporter | UDP-galactose | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Cricetulus | Humans | Cells, Cultured | Male | Congenital Disorders of Glycosylation - metabolism | Congenital Disorders of Glycosylation - pathology | Animals | Biopsy | Female | Mutation | Uridine Diphosphate Galactose - metabolism | Monosaccharide Transport Proteins - metabolism | Congenital Disorders of Glycosylation - genetics | CHO Cells | Monosaccharide Transport Proteins - genetics | Genetic aspects | Genetic disorders | Gene mutations | Galactose | Transferrin | Phenotypes | Congenital diseases | Fibroblasts | Glycosylation | Golgi apparatus | Index Medicus | Congenital Disorders of Glycosylation (CDG)
Journal Article