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European spine journal, ISSN 0940-6719, 6/2019, Volume 28, Issue 6, pp. 1386 - 1396
Surgical and nonsurgical interventions | Guideline | Surgical Orthopedics | Neurosurgery | Medicine & Public Health | Lumbar spinal stenosis | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Orthopedics | Science & Technology | Stenosis | Practice guidelines (Medicine) | Care and treatment | Spinal canal | Surgery | Paracetamol | Muscle relaxants | Pain | Working groups | Opioids | Clinical trials | Decompression | Nonsteroidal anti-inflammatory drugs | Patients | Index Medicus
Journal Article
Epilepsia (Copenhagen), ISSN 0013-9580, 12/2019, Volume 60, Issue S3, pp. S77 - S85
epilepsy | movement disorders | voltage‐gated sodium channels | SCN8A | autism | intellectual disability | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Death, Sudden - etiology | Seizures - genetics | Humans | Brain Diseases - genetics | Child, Preschool | Infant | Male | Mutation - genetics | Seizures - therapy | Electroencephalography - methods | Epilepsy - diagnosis | Intellectual Disability - genetics | Young Adult | Brain Diseases - therapy | Adolescent | Adult | Epilepsy - genetics | Female | NAV1.6 Voltage-Gated Sodium Channel - genetics | Child | Care and treatment | Movement disorders | Ketogenesis | Intellectual disabilities | Epilepsy | Cognitive ability | High fat diet | Sleep disorders | Low carbohydrate diet | Convulsions & seizures | Apnea | Encephalopathy | Sodium channels (voltage-gated) | Ataxia | Children | Seizures | Dyskinesia | Extrapyramidal system | Myoclonus | EEG | Heredity | Etiracetam | Neurological diseases | Choreoathetosis | Blindness | Death | Index Medicus
Journal Article
Nature genetics, ISSN 1061-4036, 07/2013, Volume 45, Issue 7, pp. 825 - 830
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Genetic Predisposition to Disease - genetics | Humans | Child, Preschool | Male | DNA Mutational Analysis - methods | DNA-Binding Proteins - genetics | Epilepsy - diagnosis | Epilepsy - epidemiology | Young Adult | Mutation - physiology | ras GTPase-Activating Proteins - genetics | Adolescent | Adult | Epilepsy - genetics | Female | Child | Cohort Studies | Usage | Epilepsy | Development and progression | Genetic aspects | Research | Nucleotide sequencing | DNA sequencing | Studies | Medical research | Genetics | Mutation | 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
Epilepsia (Copenhagen), ISSN 0013-9580, 04/2015, Volume 56, Issue 4, pp. e36 - e39
Epileptic encephalopathy | Severe myoclonic epilepsy in infancy | SCN1A mutation | Dravet syndrome | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Humans | NAV1.1 Voltage-Gated Sodium Channel - genetics | Child, Preschool | Epilepsies, Myoclonic - epidemiology | Male | Mutation - genetics | Incidence | Epilepsies, Myoclonic - diagnosis | Denmark - epidemiology | Female | Retrospective Studies | Child | Population Surveillance - methods | Cohort Studies | Epilepsies, Myoclonic - genetics | Medicine, Experimental | Medical research | Babies | Mutation | Index Medicus
Journal Article
Nature genetics, ISSN 1061-4036, 09/2013, Volume 45, Issue 9, pp. 1067 - 1072
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Epilepsies, Partial - diagnosis | Humans | Receptors, N-Methyl-D-Aspartate - metabolism | Models, Molecular | Male | Mutation, Missense | Receptors, N-Methyl-D-Aspartate - genetics | Pedigree | Receptors, N-Methyl-D-Aspartate - chemistry | Female | Protein Conformation | Epilepsies, Partial - genetics | Mutation | Amino Acid Substitution | Genetic aspects | Research | Gene mutations | Health aspects | Epilepsy | Risk factors | Studies | Medical research | Genotype & phenotype | Biomedical research | Womens health | Index Medicus
Journal Article
Neuropediatrics, ISSN 0174-304X, 04/2018, Volume 49, Issue S 01, pp. S1 - S12
Conference Proceeding
Epilepsia (Copenhagen), ISSN 0013-9580, 09/2020, Volume 61, Issue 9, pp. 2055 - 2056
Journal Article
American journal of human genetics, ISSN 0002-9297, 05/2015, Volume 96, Issue 5, pp. 808 - 815
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Epilepsy, Generalized - genetics | GABA Plasma Membrane Transport Proteins - genetics | Genetic Predisposition to Disease | Animals | Humans | Male | Epilepsies, Myoclonic - pathology | Epilepsy, Generalized - pathology | High-Throughput Nucleotide Sequencing | Mice | Mutation | Epilepsies, Myoclonic - genetics | Gene mutations | Epilepsy | GABA | Genetic aspects | Seizures (Medicine) | Health aspects | Identification and classification | Brain | Convulsions & seizures | Rodents | Index Medicus | Report
Journal Article
Nature genetics, ISSN 1061-4036, 02/2009, Volume 41, Issue 2, pp. 160 - 162
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Neurology | Headache. Facial pains. Syncopes. Epilepsia. Intracranial hypertension. Brain oedema. Cerebral palsy | Biological and medical sciences | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Nervous system (semeiology, syndromes) | Chromosome Deletion | Epilepsy, Generalized - genetics | Genetic Predisposition to Disease | Humans | Risk Factors | Child, Preschool | Male | Case-Control Studies | Young Adult | Comparative Genomic Hybridization | Chromosomes, Human, Pair 15 | Adolescent | Adult | Female | Child | Receptors, Nicotinic - genetics | alpha7 Nicotinic Acetylcholine Receptor | Gene mutations | Epilepsy | Schizophrenia | Genetic aspects | Diagnosis | Research | Health aspects | Risk factors | Genotype & phenotype | Genetic disorders | Families & family life | Data base management | Independent sample | Index Medicus
Journal Article
Plant and cell physiology, ISSN 0032-0781, 12/2019, Volume 60, Issue 12, pp. 2692 - 2706
Life Sciences & Biomedicine | Plant Sciences | Science & Technology | Cell Biology | Hordeum - enzymology | Hordeum - physiology | beta-Fructofuranosidase - metabolism | Hordeum - metabolism | Cell Wall - metabolism | Amylopectin - genetics | Cell Wall - enzymology | Cell Wall - physiology | Heat-Shock Response - physiology | Amylopectin - metabolism | beta-Fructofuranosidase - genetics | Index Medicus | Barley | Amylopectin | Starch | Grain filling | Regular Papers | Heat stress | Cell wall invertase
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