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Molecular cytogenetics, ISSN 1755-8166, 2014, Volume 7, Issue Suppl 1 Proceedings of the International Conference on Human, pp. I31 - I31
Journal Article
The European respiratory journal, ISSN 0903-1936, 02/2017, Volume 49, Issue 2, pp. 1501200 - 1501200
Life Sciences & Biomedicine | Respiratory System | Science & Technology | Lung Diseases - immunology | Proteolysis - drug effects | Animals | Humans | Mice | Matrix Metalloproteinases - metabolism | Lung Diseases - drug therapy | Protease Inhibitors - therapeutic use | Lung - immunology | Lung - enzymology | Lung Diseases - enzymology | Serine proteinase | Protease inhibitors | Proteases | Proteolysis | Serine | Lung diseases
Journal Article
Nature communications, ISSN 2041-1723, 12/2020, Volume 11, Issue 1, pp. 595 - 595
Chemistry(all) | Biochemistry, Genetics and Molecular Biology(all) | Physics and Astronomy(all) | Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Organoids - pathology | Oxidoreductases - genetics | Humans | Child, Preschool | Infant | Male | Zebrafish | Genes, Recessive | Oxidoreductases - chemistry | Syndrome | Animals | Pedigree | Adolescent | Alleles | Protein Domains | Epilepsy - genetics | Female | Kinetics | Child | Loss of Function Mutation - genetics | Dehydrogenases | Oligomerization | Proteoglycans | Stability | Oxidoreductase | Epilepsy | Glucose | Dehydrogenase | Delay | Mutants | UDP-glucose 6-dehydrogenase | Glucose dehydrogenase | Hypotonia | Organoids | Enzymatic activity | Glycolipids | Encephalopathy | Fibroblasts | Neural stem cells | Extracellular matrix | Mutation | Seizures | Index Medicus
Journal Article
Nature genetics, ISSN 1061-4036, 2014, Volume 46, Issue 6, pp. 640 - 645
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Amino Acid Sequence | Cricetinae | Cricetulus | Humans | Child, Preschool | Molecular Sequence Data | Infant | Male | Aicardi Syndrome - genetics | Mutation, Missense | Spasms, Infantile - genetics | Sequence Analysis, DNA | Potassium Channels - genetics | Sequence Homology, Amino Acid | Point Mutation | Patch-Clamp Techniques | Animals | DNA Mutational Analysis | Pedigree | Female | Hyperpolarization-Activated Cyclic Nucleotide-Gated Channels - genetics | CHO Cells | Cohort Studies | Gene mutations | Genetic susceptibility | Exome sequencing | Ohtahara syndrome | Genetic research | Genetic aspects | Research | Identification and classification | Methods | Studies | Disability | Autism | Epilepsy | Parkinsons disease | Amino acids | Mutation | Index Medicus | Pediatrics | Neurons and Cognition | Neurobiology | Aicardi Syndrome | Life Sciences | Genetics | Potassium Channels | Human health and pathology | Hyperpolarization-Activated Cyclic Nucleotide-Gated Channels | Spasms, Infantile | Human genetics
Journal Article
Journal of medical genetics, ISSN 0022-2593, 07/2017, Volume 54, Issue 7, pp. 460 - 470
Epileptic encephalopathy | Precision medicine | Channelopathy | Genetics(clinical) | Clustering of missense variants | Genetics | Pathogenic GRIN2B mutations | Journal Article | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Neuroimaging | Receptors, N-Methyl-D-Aspartate - antagonists & inhibitors | Humans | Brain Diseases - genetics | Receptors, N-Methyl-D-Aspartate - metabolism | Molecular Targeted Therapy | Mutation - genetics | Receptors, N-Methyl-D-Aspartate - genetics | Magnetic Resonance Imaging | Brain Diseases - drug therapy | Phenotype | Heterozygote | Memantine - therapeutic use | Complications and side effects | Channelopathies | Care and treatment | Research | Encephalopathy | Movement disorders | Intellectual disabilities | Epilepsy | Cortex | Schizophrenia | Polymicrogyria | Neurodevelopmental disorders | Visual perception | Consortia | Autism | Memantine | Ligands | Mutation | Index Medicus
Journal Article
Nature genetics, ISSN 1061-4036, 09/2015, Volume 47, Issue 10, pp. 1131 - 1140
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Gene Duplication | Autophagy-Related Proteins | Genetic Predisposition to Disease | Humans | Vesicular Transport Proteins - genetics | Repressor Proteins - genetics | Infant | Male | Germ Cells | Young Adult | Phenotype | Pedigree | Adolescent | Adult | Chromosomes, Human, Pair 14 | Female | Aged | Myelodysplastic Syndromes - genetics | Induced Pluripotent Stem Cells - cytology | Child | Leukemia, Myeloid, Acute - genetics | Genetic susceptibility | Familial diseases | Genetic research | Development and progression | Genetic aspects | Research | Myeloproliferative disorders | Index Medicus
Journal Article
Genetics in medicine, ISSN 1098-3600, 08/2017, Volume 19, Issue 8, pp. 909 - 917
Genotype-phenotype correlation | Pseudoxanthoma elasticum | Phenodex score | ABCC6 | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | France - epidemiology | Genetic Association Studies | Humans | Middle Aged | Child, Preschool | Genotype | Infant | Male | Young Adult | Phenotype | Adolescent | Pseudoxanthoma Elasticum - genetics | Aged, 80 and over | Adult | Female | Multidrug Resistance-Associated Proteins - genetics | Aged | Mutation | Pseudoxanthoma Elasticum - epidemiology | Child | Infant, Newborn | Cohort Studies | Genotype & phenotype | Index Medicus | Life Sciences | Human health and pathology | Quantitative Methods | Biochemistry, Molecular Biology | Genomics | Neurons and Cognition | Neurobiology | Sensory Organs
Journal Article
Genetics in medicine, ISSN 1098-3600, 04/2019, Volume 21, Issue 4, pp. 816 - 825
CNV | phenotypic variability | 16p11.2 deletion | Genetics(clinical) | autism | modifier | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Autistic Disorder - genetics | Cytoskeletal Proteins | Autistic Disorder - physiopathology | Gene Expression Regulation - genetics | Humans | Methyltransferases - genetics | Parents | Male | DNA Copy Number Variations - genetics | Nerve Tissue Proteins - genetics | Cell Adhesion Molecules, Neuronal - genetics | Proteins - genetics | Phenotype | Pedigree | Cognition - physiology | Female | Transcription Factors | Genetic Background | Genetic Carrier Screening | Chromosomes, Human, Pair 16 - genetics | Sequence Deletion - genetics | Siblings | Families & family life | Genes | Family medical history | Index Medicus | Life Sciences | Genetics | Human genetics
Journal Article
American journal of human genetics, ISSN 0002-9297, 03/2016, Volume 98, Issue 3, pp. 541 - 552