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Nature (London), ISSN 0028-0836, 02/2017, Volume 542, Issue 7642, pp. 433 - 438
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Prevalence | Humans | Middle Aged | Parents | Male | Mi-2 Nucleosome Remodeling and Deacetylase Complex - genetics | Developmental Disabilities - genetics | Casein Kinase II - genetics | Autoantigens - genetics | Young Adult | ras GTPase-Activating Proteins - genetics | Adult | Female | Child | CDC2 Protein Kinase - genetics | Histone-Lysine N-Methyltransferase - genetics | Repressor Proteins - genetics | Sex Characteristics | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Mutation - genetics | Nerve Tissue Proteins - genetics | Sequence Analysis, DNA | Homeodomain Proteins - genetics | DEAD-box RNA Helicases - genetics | Exome - genetics | Phenotype | Myeloid-Lymphoid Leukemia Protein - genetics | Adolescent | Heredity - genetics | Protein Phosphatase 2C - genetics | Cohort Studies | Child development deviations | Genetic aspects | Genetic disorders | Developmental disabilities | Distribution | Genes | Families & family life | Births | Genomes | Mutation | Causality | Estimates | Age | Index Medicus | TRIO | MYT1L | EHMT1 | HNRNPU | SUV420H1 | COL4A3BP | SYNGAP1 | PPP2R1A | POGZ | EP300 | KCNH1 | SCN1A | MEF2C | CDKL5 | CSNK2A1 | DYRK1A | CASK | ALG13 | FOXP1 | KAT6B | TBL1XR1 | KAT6A | SCN8A | KCNQ2 | EEF1A2 | KCNQ3 | ADNP | PhenIcons | SET | KMT2A | ANKRD11 | STXBP1 | FOXG1 | ZC4H2 | ITPR1 | De novo mutation | Seizures | ZBTB18 | CREBBP | SMAD4 | PDHA1 | IQSEC2 | AUTS2 | BCL11A | BRAF | SMARCA2 | GRIN2B | MED13L | GNAO1 | CNOT3 | TCF4 | SCN2A | CDK13 | GABRB3 | SETD5 | KDM5B | Developmental Disease | DDX3X | CHD8 | PTEN | CHD4 | TCF20 | CTCF | CHD2 | WDR45 | SLC6A1 | MECP2 | CHAMP1 | KIF1A | Average Faces | MSL3 | PPP2R5D | SMC1A | ARID1B | DNM1 | CNKSR2 | PACS1 | WAC | ZMYND11 | AHDC1 | NFIX | SATB2 | HDAC8 | PPM1D | GNAI1 | PURA | PUF60 | NSD1 | Intellectual Disability | SLC35A2 | DYNC1H1 | NAA10 | USP9X | PTPN11 | GATAD2B | ASXL1 | KANSL1 | ASXL3 | CTNNB1 | QRICH1
Journal Article
Nature genetics, ISSN 1061-4036, 01/2019, Volume 51, Issue 1, pp. 106 - 116
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Autistic Disorder - genetics | Humans | Mi-2 Nucleosome Remodeling and Deacetylase Complex - genetics | DNA Copy Number Variations - genetics | Developmental Disabilities - genetics | Neurodevelopmental Disorders - genetics | Mutation - genetics | Intellectual Disability - genetics | Exome - genetics | Phenotype | Animals | Chromosome Aberrations | Polymorphism, Single Nucleotide - genetics | Mice | Intracellular Signaling Peptides and Proteins - genetics | Gene mutations | Copy number variations | Analysis | Nervous system | Degeneration | Genetic aspects | Research | Morbidity | Neurosciences | Intellectual disabilities | Copy number | Genes | Disorders | Likelihood ratio | Genomes | Gene deletion | Neurodevelopmental disorders | Spiny neurons | Autism | Missense mutation | Clonal deletion | Reproduction (copying) | Neostriatum | Gene duplication | Mutation | Chromosome 16 | Index Medicus | TRIO | MYT1L | HNRNPU | EHMT1 | ENO3 | CAPN15 | SUV420H1 | PPP1CB | EFTUD2 | COL4A3BP | SYNGAP1 | PPP2R1A | POGZ | EP300 | KCNH1 | SOX5 | MAP2K1 | MEF2C | CSNK2A1 | TMEM178A | DYRK1A | CASK | FOXP1 | KAT6B | TBL1XR1 | KAT6A | SCN8A | HECW2 | KCNQ2 | EEF1A2 | KCNQ3 | ADNP | Genetics of Developmental Delay | DLX3 | SET | KMT2A | SRCAP | ANP32A | STXBP1 | CUL3 | FOXG1 | ANKRD11 | ITPR1 | de novo Mutation | HIVEP3 | SNX5 | ZBTB18 | CREBBP | IQSEC2 | BCL11A | NONO | UPF3B | BRAF | ADAP1 | GRIN2B | SMARCA2 | SMARCA4 | MED13L | GNAO1 | AGO4 | DLG4 | CAPRIN1 | Neurodevelopmental Disorders | TCF4 | CDK13 | SCN2A | GABRB2 | KDM5B | SETD5 | DDX3X | CHD8 | PTEN | TCF20 | CTCF | CHD3 | CHD2 | WDR45 | SLC6A1 | MECP2 | SNAPC5 | SYNCRIP | TLK2 | CHAMP1 | KIF1A | RAC1 | TNPO2 | DNMT3A | MSL3 | PPP2R5D | ASH1L | SMC1A | ARID1B | CNKSR2 | PACS2 | SETBP1 | PIK3CA | PACS1 | WAC | ZMYND11 | SHANK3 | AHDC1 | SMARCD1 | WDR26 | NFIX | SATB2 | KIAA2022 | HDAC8 | PPM1D | GNAI1 | PURA | PUF60 | NSD1 | LEO1 | DYNC1H1 | MBD5 | NAA10 | USP9X | PTPN11 | MEIS2 | GATAD2B | KANSL1 | ASXL3 | CTNNB1 | TRIP12 | QRICH1 | NAA15 | TAF1
Journal Article
Frontiers in physiology, ISSN 1664-042X, 2013, Volume 4, pp. 201 - 201
FIG | 10.1 | Trafficking | GOPC | Potassium channels | KCNH1 | PIST | Potassium Channels | KV10.1 | trafficking
Journal Article
European journal of cancer (1990), ISSN 0959-8049, 2012, Volume 49, Issue 3, pp. 710 - 724
Hematology, Oncology and Palliative Medicine | Ether-à-go-go (EAG1, KCNH1) | MicroRNAs | Multi-drug resistance (MDR) | Glioblastoma | Life Sciences & Biomedicine | Oncology | Science & Technology | Biological and medical sciences | Medical sciences | Pharmacology. Drug treatments | Tumors | Cell Proliferation | Drug Resistance, Multiple | Neoplasm Invasiveness | Humans | Brain Neoplasms - pathology | Gene Expression Regulation, Neoplastic | Drug Resistance, Neoplasm | ERG1 Potassium Channel | Ether-A-Go-Go Potassium Channels - genetics | Glioblastoma - pathology | Cell Line, Tumor | Ether-A-Go-Go Potassium Channels - physiology | MicroRNAs - physiology | Glioblastoma - drug therapy | Immunohistochemistry | MicroRNA | Drug resistance | Gene expression | Glioblastoma multiforme | Index Medicus
Journal Article
The Journal of biological chemistry, ISSN 0021-9258, 12/2015, Volume 290, Issue 51, pp. 30351 - 30365
Cyclin-Dependent Kinases - metabolism | Oocytes - metabolism | Humans | Xenopus laevis | Ether-A-Go-Go Potassium Channels - metabolism | Molecular Sequence Data | Alternative Splicing - physiology | Ether-A-Go-Go Potassium Channels - genetics | Oocytes - cytology | Animals | Protein Isoforms - metabolism | Base Sequence | HEK293 Cells | Cell Cycle - physiology | Enzyme Activation | HeLa Cells | Cyclin-Dependent Kinases - genetics | Protein Isoforms - genetics | Index Medicus | KV10.1 | cell cycle | post-transcriptional regulation | glycosylation | potassium channel | Cell Biology | RNA splicing | KCNH1
Journal Article
Current medicinal chemistry, ISSN 0929-8673, 02/2012, Volume 19, Issue 5, pp. 675 - 682
Journal Article
Biochemical and biophysical research communications, ISSN 0006-291X, 02/2017, Volume 484, Issue 1, pp. 107 - 112
Ion binding sites | KCNH1 channel | Na+ binding sites | Molecular dynamics simulation | Y464A mutant | C-type inactivation | binding sites | Biochemistry & Molecular Biology | Biophysics | Life Sciences & Biomedicine | Science & Technology | Cryoelectron Microscopy | Ether-A-Go-Go Potassium Channels - metabolism | Ether-A-Go-Go Potassium Channels - chemistry | Humans | Molecular Dynamics Simulation | Index Medicus | MOLECULAR DYNAMICS METHOD | ELECTRIC POTENTIAL | FILTERS | CONDENSED MATTER PHYSICS, SUPERCONDUCTIVITY AND SUPERFLUIDITY | SIMULATION | KAONS PLUS | POTASSIUM IONS | SODIUM IONS | CONFORMATIONAL CHANGES
Journal Article
BMC cardiovascular disorders, ISSN 1471-2261, 12/2019, Volume 19, Issue 1, pp. 296 - 4
Cardiac & Cardiovascular Systems | Life Sciences & Biomedicine | Cardiovascular System & Cardiology | Science & Technology | Myocardial infarction | Anticoagulants | Heart attacks | Congenital diseases | Medical imaging | Angiography | Coronary artery | Diarrhea | Cardiovascular disease | Nervous system | Family medical history | Angina pectoris | Blood clots | Hospitals | Pain | Coronary vessels | Point mutation | Tomography | Electrocardiography | Potassium channels (voltage-gated) | Blood pressure | Mutation | Heart diseases | Potassium | Coronary artery ectasia | Acute myocardial infarction | Gene mutation | Embolism | KCNH1
Journal Article
Genes, ISSN 2073-4425, 02/2020, Volume 11, Issue 2, p. 119
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Retinoblastoma - genetics | Humans | Retinoblastoma Protein - metabolism | Gene Expression Regulation, Neoplastic | Child, Preschool | Ether-A-Go-Go Potassium Channels - metabolism | Infant | Male | Ether-A-Go-Go Potassium Channels - genetics | Retinoblastoma - metabolism | Transfection | Retinoblastoma Protein - genetics | Astemizole - pharmacology | Cell Line, Tumor | Female | Cell Proliferation - drug effects | HeLa Cells | RNA, Messenger | Oncogenes | Retinal Neoplasms - genetics | Index Medicus | kv10.1 | retinoblastoma | potassium channels | tumor suppressor | astemizole | kcnh1 | eag1 channels
Journal Article
BMC medical genetics, ISSN 1471-2350, 06/2016, Volume 17, Issue 1, pp. 42 - 42
Zimmermann-Laband syndrome | Temple-Baraitser syndrome | Whole genome sequencing | KCNH1 | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Hallux - abnormalities | Humans | Fibromatosis, Gingival - genetics | Infant | Male | Mutation, Missense | Hand Deformities, Congenital - diagnosis | Intellectual Disability - genetics | Toes - diagnostic imaging | DNA Mutational Analysis | Abnormalities, Multiple - genetics | Craniofacial Abnormalities - genetics | Thumb - diagnostic imaging | Fibromatosis, Gingival - diagnosis | Protein-Serine-Threonine Kinases - genetics | DNA - metabolism | Ether-A-Go-Go Potassium Channels - genetics | Nails, Malformed - genetics | DNA - isolation & purification | DNA - chemistry | Craniofacial Abnormalities - diagnosis | Hand Deformities, Congenital - genetics | Abnormalities, Multiple - diagnosis | Intellectual Disability - diagnosis | Thumb - abnormalities | Nails, Malformed - diagnosis | Genetic disorders | Gene mutations | Physiological aspects | Development and progression | Genetic aspects | Potassium channels | Research | Risk factors | Index Medicus
Journal Article
Epileptic disorders, ISSN 1294-9361, 06/2016, Volume 18, Issue 2, pp. 123 - 136
KCNH1-related encephalopathy | undefined intellectual disability | Zimmermann-Laband syndrome | genetic epilepsy | MICE | Temple-Baraitser syndrome | MUTATIONS | Temple‐Baraitser syndrome | KCNH1‐related encephalopathy | Zimmermann‐Laband syndrome | KCNH1-Related encephalopathy | Zimmermann-laband syndrome | Temple-baraitser syndrome | Genetic epilepsy | Undefined intellectual disability | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Hallux - abnormalities | Humans | Thumb - physiopathology | Child, Preschool | Fibromatosis, Gingival - genetics | Infant | Male | Abnormalities, Multiple - drug therapy | Electroencephalography | Craniofacial Abnormalities - physiopathology | Epilepsy - physiopathology | Fibromatosis, Gingival - drug therapy | Nails, Malformed - physiopathology | Intellectual Disability - genetics | Young Adult | Adult | Epilepsy - genetics | Female | Child | Abnormalities, Multiple - genetics | Craniofacial Abnormalities - genetics | Brain - physiopathology | Anticonvulsants - therapeutic use | Craniofacial Abnormalities - drug therapy | Nails, Malformed - drug therapy | Ether-A-Go-Go Potassium Channels - genetics | Abnormalities, Multiple - physiopathology | Syndrome | Nails, Malformed - genetics | Hand Deformities, Congenital - drug therapy | Intellectual Disability - drug therapy | Intellectual Disability - physiopathology | Fibromatosis, Gingival - physiopathology | Hand Deformities, Congenital - genetics | Hand Deformities, Congenital - physiopathology | Adolescent | Epilepsy - drug therapy | Hallux - physiopathology | Thumb - abnormalities | Convulsions & seizures | Mutation | Intellectual disabilities | Epilepsy | Index Medicus
Journal Article