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American journal of human genetics, ISSN 0002-9297, 03/2016, Volume 98, Issue 3, pp. 562 - 570
endoplasmic reticulum (ER)-membrane complex | intracellular transport | Whole-exome sequencing | EMC1 | inter-organellar communication | mitochondrial membrane | neurodegeneration | cerebellar atrophy | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Endoplasmic Reticulum-Associated Degradation | Scoliosis - genetics | Humans | Child, Preschool | Molecular Sequence Data | Male | Developmental Disabilities - genetics | Muscle Hypotonia - diagnosis | Genetic Variation | Atrophy - genetics | Female | Child | Developmental Disabilities - diagnosis | Amino Acid Sequence | Muscle Hypotonia - genetics | Genetic Association Studies | Protein Folding | Cerebellum - pathology | Proteins - genetics | Magnetic Resonance Imaging | Proteins - metabolism | Pedigree | Adolescent | Alleles | Atrophy - diagnosis | Heterozygote | Mutation | Scoliosis - diagnosis | Allelomorphism | Atrophy | Genetic aspects | Genetic variation | Scoliosis | Health aspects | Brain diseases | Genotype & phenotype | Mitochondria | Nuclear magnetic resonance--NMR | Protein folding | Index Medicus | Report
Journal Article
American journal of human genetics, ISSN 0002-9297, 03/2014, Volume 94, Issue 3, pp. 415 - 425
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Markov Chains | Oligonucleotide Array Sequence Analysis | Humans | Middle Aged | Databases, Genetic | Male | Developmental Disabilities - genetics | DNA Copy Number Variations | Young Adult | DNA Mutational Analysis | Gene Deletion | Chromosomes, Artificial, Bacterial | Adult | Female | Odds Ratio | Genotype | Cognition Disorders - genetics | Phenotype | Child Development Disorders, Pervasive - genetics | Adolescent | Sex Factors | Aged | Polymorphism, Single Nucleotide | Mutation | Cohort Studies | Psychological aspects | Child development deviations | Genetic aspects | Gene mutations | Health aspects | Developmental disabilities | Autism | Genotype & phenotype | Biological variation | Chromosomes | Index Medicus
Journal Article
The New England journal of medicine, ISSN 0028-4793, 01/2017, Volume 376, Issue 1, pp. 21 - 31
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Exome | Genetic Variation | Phenotype | Humans | Genetic Diseases, Inborn - genetics | High-Throughput Nucleotide Sequencing | Retrospective Studies | Genotyping Techniques | Sequence Analysis, DNA - methods | Research | Genomics | Exome sequencing | Genotype & phenotype | Hypotheses | Phenotypes | Laboratories | Data processing | Genomes | Diagnosis | Patients | Genotypes | Index Medicus | Abridged Index Medicus
Journal Article
American journal of human genetics, ISSN 0002-9297, 10/2016, Volume 99, Issue 4, pp. 831 - 845
de novo variant | optic atrophy | neuropathy | CNV | cardiomyopathy | whole-exome sequencing | ATAD3A | dominant negative | mitochondrial dynamics | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Neurons - pathology | Humans | Child, Preschool | Infant | Male | Developmental Disabilities - genetics | Mitochondrial Proteins - genetics | Nervous System Diseases - genetics | Drosophila melanogaster - genetics | Muscles - pathology | Young Adult | Cardiomyopathies - genetics | Fibroblasts | Adult | Female | Nervous System Diseases - metabolism | Child | Infant, Newborn | Nervous System Diseases - pathology | Optic Atrophy - genetics | ATPases Associated with Diverse Cellular Activities | Muscle Hypotonia - genetics | Membrane Proteins - genetics | DNA Copy Number Variations - genetics | Mitochondria - metabolism | Mitochondria - pathology | Syndrome | Homozygote | Phenotype | Animals | Axons - pathology | Alleles | Polymorphism, Single Nucleotide - genetics | Adenosine Triphosphatases - genetics | Mutation | Allelomorphism | Nervous system diseases | Genetic aspects | Genetic variation | Health aspects | Adenosine triphosphatase | Proteins | Genotype & phenotype | Genetics | Mitochondria | Membranes | Neurological disorders | Index Medicus
Journal Article
American journal of human genetics, ISSN 0002-9297, 11/2013, Volume 93, Issue 5, pp. 798 - 811
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Chromosomes, Human, Pair 8 - genetics | RNA-Binding Proteins - genetics | Microcephaly - genetics | Membrane Proteins - genetics | Humans | RNA Splicing Factors | Child, Preschool | Repressor Proteins - genetics | Male | Chromosome Mapping | Developmental Disabilities - genetics | Zebrafish - genetics | DNA Copy Number Variations | Gene Knockdown Techniques | Intellectual Disability - genetics | Phenotype | Animals | Gene Deletion | Tumor Suppressor Proteins - genetics | Adolescent | Alleles | Female | HeLa Cells | Child | Research | Gene expression | Genetic variation | Genotype & phenotype | Genetic disorders | Mutation | Genes | Index Medicus | Life Sciences
Journal Article
Nature (London), ISSN 0028-0836, 12/2014, Volume 516, Issue 7530, pp. 267 - 271
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Amino Acid Sequence | Cell Line | Phosphorylation | Histones - chemistry | Saccharomyces cerevisiae - genetics | Humans | Molecular Sequence Data | Transcription Elongation, Genetic | Saccharomyces cerevisiae - metabolism | Tyrosine - metabolism | Histones - genetics | Conserved Sequence | Histones - metabolism | Casein Kinase II - metabolism | Tyrosine - chemistry | Ubiquitination - genetics | Tyrosine | Physiological aspects | Histones | Genetic research | Research | Genetic transcription | Proteins | Studies | Genotype & phenotype | Yeast | Genetic engineering | Mutation | RNA polymerase | Kinases | Mammals | Index Medicus | Casein Kinase 2 (CK2) | transcriptional elongation | tyrosine phosphorylation | SAGA complex | histone H2A | yeast
Journal Article
Nature genetics, ISSN 1061-4036, 09/2011, Volume 43, Issue 9, pp. 838 - 846
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Biological and medical sciences | Genetics of eukaryotes. Biological and molecular evolution | Genetic Variation | Congenital Abnormalities - genetics | Humans | Child, Preschool | Adult | Chromosome Mapping | Developmental Disabilities - genetics | Gene Dosage | Genetic variation | Birth defects | Genetic aspects | Diagnosis | Research | Gene expression | Morbidity | Disability | Medical research | Autism | Pediatrics | Disease | Womens health | Data collection | Genomes | Mutation | Manuscripts | Index Medicus
Journal Article