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Nature genetics, ISSN 1061-4036, 05/2013, Volume 45, Issue 5, pp. 552 - 555
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Epilepsies, Partial - diagnosis | Humans | Middle Aged | Molecular Sequence Data | Male | Case-Control Studies | Brain - metabolism | Young Adult | Adult | Female | Child | Genetic Linkage | Amino Acid Sequence | Genetic Predisposition to Disease - genetics | Guanine Nucleotide Exchange Factors - genetics | Computational Biology | Genotype | Mutation - genetics | Sequence Homology, Amino Acid | Exome - genetics | Pedigree | Adolescent | Brain - pathology | Epilepsies, Partial - genetics | Genome, Human | Cohort Studies | Genetic aspects | Research | Gene mutations | Health aspects | Epilepsy | Risk factors | Proteins | Genetics | Mutation | Genes | Index Medicus | Life Sciences | Biodiversity
Journal Article
Cell metabolism, ISSN 1550-4131, 08/2016, Volume 24, Issue 2, pp. 234 - 245
Endocrinology & Metabolism | Life Sciences & Biomedicine | Science & Technology | Cell Biology | Liver - enzymology | Humans | Glycoproteins - metabolism | Lipoproteins, HDL - metabolism | Gene Knockdown Techniques | Phospholipid Transfer Proteins - metabolism | Angiopoietin-like Proteins | Base Sequence | N-Acetylgalactosaminyltransferases - genetics | Primates | Models, Animal | N-Acetylgalactosaminyltransferases - chemistry | N-Acetylgalactosaminyltransferases - metabolism | Amino Acid Sequence | N-Acetylgalactosaminyltransferases - deficiency | Angiopoietins - metabolism | Rats | Mutation - genetics | Mice, Knockout | Triglycerides - metabolism | Homozygote | Phenotype | Animals | Proteomics | Cholesterol, HDL - blood | Polymorphism, Single Nucleotide - genetics | Mice | Medical colleges | Analysis | Rodents | Physiological aspects | Blood lipids | Population genetics | Index Medicus
Journal Article
American journal of human genetics, ISSN 0002-9297, 10/2014, Volume 95, Issue 4, pp. 360 - 370
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fatty Acid Synthase, Type I - genetics | Receptors, GABA-B - genetics | Synaptic Transmission - genetics | Humans | Male | Spasms, Infantile - genetics | Gene Regulatory Networks | Mutation - genetics | Dynamin I - genetics | Lennox Gastaut Syndrome - genetics | Protein Interaction Maps | Exome - genetics | Ryanodine Receptor Calcium Release Channel - genetics | Female | Infant, Newborn | Cohort Studies | Genetic research | Genetic aspects | Research | Gene mutations | Epilepsy | Proteins | Consortia | Genetic disorders | Mutation | Genomics | Index Medicus
Journal Article
Human mutation, ISSN 1059-7794, 04/2012, Volume 33, Issue 4, pp. 627 - 634
epilepsy | X‐linked | male sparing | cellular interference | PCDH19 | females | X-linked | Cellular interference | Females | Epilepsy | Male sparing | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Genes, X-Linked | Cadherins - metabolism | Humans | Epilepsy - genetics | Female | Male | Mutation | Cadherins - genetics | Epilepsy - etiology | Epilepsy - diagnosis | Polymorphism, Genetic | Index Medicus | Life Sciences | Biochemistry, Molecular Biology | Cadherins
Journal Article
Neurogenetics, ISSN 1364-6745, 8/2018, Volume 19, Issue 3, pp. 165 - 178
Human Genetics | Neurosciences | Biomedicine | MAST4 | Genetic generalized epilepsy | Molecular Medicine | Polygenic inheritance | Gene panel | CACNA1H | SCN1A | Clinical Neurology | Genetics & Heredity | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Medical research | Anopheles | Genes | Epilepsy | Genetic research | Medicine, Experimental | Disease susceptibility | Seizures (Medicine) | Phenotypes | Heredity | Genetic factors | Children | Mutation | Population genetics | Seizures
Journal Article
The Journal of clinical investigation, ISSN 0021-9738, 06/2018, Volume 128, Issue 6, pp. 2452 - 2458
Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Dendrites - pathology | Neurons - pathology | Humans | Spine - metabolism | Male | GTPase-Activating Proteins - metabolism | Mechanistic Target of Rapamycin Complex 1 - genetics | Mice, Mutant Strains | Germ-Line Mutation | Female | Neurons - metabolism | Malformations of Cortical Development - pathology | Spine - pathology | Repressor Proteins - metabolism | Dendrites - metabolism | Malformations of Cortical Development - metabolism | Repressor Proteins - genetics | Malformations of Cortical Development - genetics | Epilepsies, Partial - pathology | Mechanistic Target of Rapamycin Complex 1 - metabolism | Epilepsies, Partial - metabolism | Animals | CRISPR-Cas Systems | Epilepsies, Partial - genetics | Mice | GTPase-Activating Proteins - genetics | CRISPR | Cardiac arrhythmia | Dysplasia | Epilepsy | Genes | Cortex | Case reports | Electroporation | Amino acids | Genomes | Chemoreception | Drug resistance | Proteins | Dendritic spines | Surgery | Rodents | Mosaicism | Genetic engineering | Mutation | Index Medicus | Abridged Index Medicus
Journal Article
Annals of neurology, ISSN 0364-5134, 04/2015, Volume 77, Issue 4, pp. 675 - 683
Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Epilepsies, Partial - diagnosis | Humans | Middle Aged | Repressor Proteins - genetics | Male | Malformations of Cortical Development - genetics | Mutation - genetics | Young Adult | Malformations of Cortical Development - diagnosis | Pedigree | Adolescent | Adult | Female | Epilepsies, Partial - genetics | Child | Drug resistance | Epilepsy | Mutation | Index Medicus | Neuroscience | Cognitive science
Journal Article
Genetics in medicine, ISSN 1098-3600, 02/2019, Volume 21, Issue 2, pp. 398 - 408
Genetic focal epilepsy | mTORC1 pathway | Focal cortical dysplasia | SUDEP | DEPDC5 | Genetics(clinical) | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Brugada Syndrome - genetics | Seizures - genetics | Brugada Syndrome - physiopathology | Humans | Child, Preschool | INDEL Mutation - genetics | Infant | Male | Multiprotein Complexes - genetics | Epilepsy - physiopathology | Seizures - complications | Epilepsy - epidemiology | Seizures - physiopathology | Mechanistic Target of Rapamycin Complex 1 - genetics | Tumor Suppressor Proteins - genetics | Epilepsy - genetics | Female | Child | Infant, Newborn | Brugada Syndrome - mortality | Genetic Predisposition to Disease | Repressor Proteins - genetics | DNA Copy Number Variations - genetics | Signal Transduction - genetics | Epilepsy - complications | Pedigree | Seizures - epidemiology | Adolescent | GTPase-Activating Proteins - genetics | Loss of Function Mutation - genetics | Convulsions & seizures | Epilepsy | Index Medicus | Life Sciences | Genetics | Human genetics | focal cortical dysplasia | genetic focal epilepsy
Journal Article
Acta neuropathologica, ISSN 0001-6322, 4/2013, Volume 125, Issue 4, pp. 511 - 522
Pathology | Neurosciences | Medicine & Public Health | Neuropathology | Motor neuron disease | Paget’s disease | FTLD–ALS | p62 | Familial and sporadic ALS | FTLD-ALS | Paget's disease | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Sequestosome-1 Protein | Amyotrophic Lateral Sclerosis - genetics | Humans | Middle Aged | Ubiquitin - metabolism | Male | Ubiquitin - genetics | DNA-Binding Proteins - genetics | DNA-Binding Proteins - metabolism | Amyotrophic Lateral Sclerosis - pathology | Adaptor Proteins, Signal Transducing - genetics | Aged, 80 and over | Brain - pathology | Adult | Female | Heterozygote | Aged | Mutation | Adaptor Proteins, Signal Transducing - metabolism | Ubiquitin | Amyotrophic lateral sclerosis | Genetic aspects | Gene mutations | Analysis | Genes | Index Medicus
Journal Article