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Genetics in medicine, ISSN 1098-3600, 06/2018, Volume 20, Issue 6, pp. 645 - 654
Journal Article
American journal of human genetics, ISSN 0002-9297, 08/2016, Volume 99, Issue 2, pp. 253 - 274
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Microcephaly - genetics | Transcription Factors - chemistry | Humans | Transcriptome | Chromatin Assembly and Disassembly - genetics | Male | Neurodevelopmental Disorders - genetics | Cerebral Cortex - metabolism | Mutation, Missense - genetics | Intellectual Disability - genetics | Social Behavior | Carrier Proteins - chemistry | Transcription, Genetic | Nuclear Proteins - genetics | Frameshift Mutation - genetics | Haploinsufficiency - genetics | Intellectual Disability - pathology | Nuclear Proteins - metabolism | Cognition Disorders - genetics | Neurodevelopmental Disorders - physiopathology | Transcription Factors - genetics | Nuclear Proteins - chemistry | Neurodevelopmental Disorders - pathology | Syndrome | Transcription Factors - metabolism | Carrier Proteins - genetics | Hippocampus - metabolism | Phenotype | Animals | Carrier Proteins - metabolism | Intellectual Disability - psychology | Mice | Codon, Nonsense - genetics | Genetic aspects | Genetic transcription | Nucleotide sequencing | Mental retardation | Health aspects | Methods | DNA sequencing | Genotype & phenotype | Chromatin | Mutation | Cognition & reasoning | Intellectual disabilities | Neurological disorders | Index Medicus | Life Sciences | Human health and pathology
Journal Article
American journal of medical genetics. Part A, ISSN 1552-4825, 02/2018, Volume 176, Issue 2, pp. 460 - 464
Lowe syndrome | OCRL | growth deficiency | oculocerebrorenal syndrome | severe osteopathy | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Oculocerebrorenal Syndrome - genetics | Phosphoric Monoester Hydrolases - genetics | Humans | Catalytic Domain - genetics | Egypt | Male | Abnormalities, Multiple - physiopathology | Young Adult | Kidney - metabolism | Phenotype | Psychomotor Disorders - genetics | Adult | Cataract - genetics | Mutation | Psychomotor Disorders - physiopathology | Cataract - physiopathology | Glaucoma - genetics | Abnormalities, Multiple - genetics | Glaucoma - physiopathology | Kidney - physiopathology | Oculocerebrorenal Syndrome - physiopathology | Glaucoma | Physiological aspects | Genetic aspects | Genetic disorders | Seizures (Medicine) | Kidney diseases | Cataracts | Phosphatidylinositol | Genotype & phenotype | Bone growth | Renal function | Kidneys | Central nervous system | Osteopathy | Seizures | Index Medicus
Journal Article
The Journal of cell biology, ISSN 0021-9525, 1/2007, Volume 176, Issue 3, pp. 283 - 294
Heterochromatin | Chromatin | Spermatozoa | Germ cells | Somatic cells | DNA | Spermatids | Histones | Antibodies | Acetylation | Life Sciences & Biomedicine | Science & Technology | Cell Biology | Amino Acid Sequence | Meiosis - physiology | Histones - chemistry | Molecular Sequence Data | Male | Heterochromatin - physiology | Nucleoproteins - physiology | Spermatogenesis - physiology | Animals | Histones - genetics | Spermatids - physiology | Spermatids - cytology | Mice | Histones - metabolism | Dimerization | Genetics | Rodents | Cells | Index Medicus | Nucleoproteins | Spermatogenesis | Meiosis | Life Sciences | Cancer
Journal Article
BMC genomics, ISSN 1471-2164, 11/2020, Volume 21, Issue 1, pp. 1 - 762
Genetics & Heredity | Life Sciences & Biomedicine | Biotechnology & Applied Microbiology | Science & Technology | Genetic research | Genetic engineering | Research | Genetic variation | Identification and classification | Datasets | Context | Algorithms | Annotations | Insertion | Homology | Recall | Genomes | Deoxyribonucleic acid--DNA | Complexity | Index Medicus | Bioinformatics | Computer Science | Short reads | Structural variants | Insertions | Variant calling
Journal Article
Journal of molecular medicine (Berlin, Germany), ISSN 0946-2716, 5/2019, Volume 97, Issue 5, pp. 633 - 645
Human Genetics | Biomedicine | Internal Medicine | Molecular Medicine | Cohen syndrome | Neutropenia | Apoptosis | Serpin B1 | Genetics & Heredity | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Cell survival | Leukocyte migration | Intercellular adhesion molecule 1 | Abnormalities | Neutrophils | Leukocytes (neutrophilic) | Glycosylation | Gene expression | Patients | Critical components | Golgi apparatus | Proteins | Cell death | Morphology | Conditioned stimulus | Elastase | Mutation | Localization | Endoplasmic reticulum | Cell migration | Index Medicus
Journal Article
Nature communications, ISSN 2041-1723, 12/2020, Volume 11, Issue 1, pp. 2243 - 2243
RNA-mediated interference | Genes | Embryo cells | Homeostasis | Stem cell transplantation | Genomes | Gene expression | Recruitment | Haploinsufficiency | Proteins | Cell activation | Insects | Evolutionary conservation | Transcription activation | Stem cells | Fibroblasts | Histones | Bet protein | Evolution | Acetyltransferase | Acetylation | Index Medicus | Life Sciences | Molecular Networks | Biochemistry, Molecular Biology
Journal Article
American journal of human genetics, ISSN 0002-9297, 07/2014, Volume 95, Issue 1, pp. 113 - 120
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Seizures - genetics | Pedigree | Brain Diseases - complications | Humans | Symporters - genetics | Brain Diseases - genetics | Seizures - etiology | Female | Male | Mutation | Genes, Recessive | Genetic disorders | Gene mutations | Encephalopathy | Physiological aspects | Genetic research | Genetic aspects | Research | Seizures (Medicine) | Genotype & phenotype | Convulsions & seizures | Metabolism | Epilepsy | Index Medicus | Life Sciences | Human health and pathology | Genetics | Neurons and Cognition | Report
Journal Article
Nature genetics, ISSN 1061-4036, 10/2019, Volume 51, Issue 10, pp. 1438 - 1441
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Neurocutaneous Syndromes - etiology | Zygote | Humans | Mosaicism | Mutation | Neurocutaneous Syndromes - pathology | rhoA GTP-Binding Protein - genetics | Skin Pigmentation - genetics | Gene mutations | Pigmentation disorders | Research | Nuclear magnetic resonance--NMR | Science | Amino acids | RhoA protein | Mitochondrial DNA | Leukoencephalopathy | Patients | Pigmentation | Proteins | Signal transduction | Brain research | Alopecia | Mutagenesis | Etiology | Plasmids | Cell cycle | Genetic testing | Deoxyribonucleic acid--DNA | Anomalies | Index Medicus | Life Sciences | Human health and pathology | Sensory Organs
Journal Article
Genetics in medicine, ISSN 1098-3600, 2019, Volume 21, Issue 9, pp. 2025 - 2035
cholesterol pathway | early-onset epileptic encephalopathy | alopecia | LSS | intellectual disability | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Alopecia - complications | Humans | Child, Preschool | Infant | Intellectual Disability - complications | Male | Developmental Disabilities - genetics | Cholesterol - genetics | Squalene - analogs & derivatives | Squalene - metabolism | Intellectual Disability - genetics | Developmental Disabilities - pathology | Alopecia - genetics | Epilepsy - genetics | Female | Lanosterol - metabolism | Child | Intramolecular Transferases - genetics | Intellectual Disability - pathology | Lanosterol - genetics | Cholesterol - metabolism | Alopecia - pathology | Epilepsy - complications | Whole Exome Sequencing | Phenotype | Pedigree | Age of Onset | Mutation | Developmental Disabilities - complications | Epilepsy - pathology | Biosynthesis | Alopecia | Baldness | Intellectual disabilities | Cholesterol | Index Medicus | Life Sciences | Human health and pathology | Food and Nutrition | Dermatology
Journal Article