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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
BMC medical genetics, ISSN 1471-2350, 08/2020, Volume 21, Issue 1, pp. 1 - 158
Genetics | Mental illness | Genes | Hair | Phenotypes | Intelligence | Intellectual disabilities | Tricho-rhino-phalangeal syndrome | Csnk2a1 gene | Neurodevelopmental disorders | Kinases | Patients | Proteins | Parents & parenting | Nose | Mutation | Diagnosis | Age | Deoxyribonucleic acid--DNA | Index Medicus | Case report | Okur-Chung neurodevelopmental syndrome | CSNK2A1 | Dual molecular diagnosis | Tricho-rhino-phalangeal syndrome type I | TRPS1
Journal Article
Clinical genetics, ISSN 0009-9163, 2018, Volume 93, Issue 4, pp. 880 - 890
Okur‐Chung syndrome | developmental delay | CSNK2A1 | whole exome sequencing | Okur-Chung syndrome | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Developmental Disabilities - physiopathology | Humans | Child, Preschool | Genotype | Male | Developmental Disabilities - genetics | Neurodevelopmental Disorders - genetics | Neurodevelopmental Disorders - physiopathology | Casein Kinase II - genetics | Whole Exome Sequencing - methods | Mutation, Missense - genetics | Protein Folding | Face - physiopathology | Intellectual Disability - genetics | Intellectual Disability - physiopathology | Casein Kinase II - chemistry | Phenotype | Musculoskeletal Abnormalities - genetics | Adolescent | Female | Protein Conformation | Musculoskeletal Abnormalities - physiopathology | Child | Enzymes | Genetic aspects | Phenotypes | Microencephaly | Protein kinase | Evolutionary conservation | Ear | Csnk2a1 gene | Neurodevelopmental disorders | Kinases | Genotypes | Index Medicus | Life Sciences | Human health and pathology
Journal Article
Neoplasia (New York, N.Y.), ISSN 1476-5586, 01/2019, Volume 21, Issue 1, pp. 61 - 73
Chromatin - metabolism | Colonic Neoplasms - genetics | Phosphorylation | Oxidation-Reduction | Humans | Gene Expression Regulation, Neoplastic | Colonic Neoplasms - metabolism | Protein Kinase C - metabolism | Cell Line, Tumor | Protein Binding | Chromatin - genetics | Fatty Acids - metabolism | Sirtuins - metabolism | Protein kinase C | Chromatin | Threonine | Tumor cells | Colorectal cancer | Homeostasis | Palmitic acid | Kinases | Fatty acids | Phosphorylase | Glucose metabolism | Colon cancer | Oxidation | Lipid metabolism | Index Medicus
Journal Article
American journal of medical genetics. Part A, ISSN 1552-4825, 05/2018, Volume 176, Issue 5, pp. 1108 - 1114
protein kinase CK2 | Okur–Chung | CSNK2A1 | DDD study | intellectual disability | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Amino Acid Sequence | Exons | Humans | Male | Neurodevelopmental Disorders - genetics | Casein Kinase II - genetics | Amino Acid Motifs | Casein Kinase II - chemistry | Phenotype | Alleles | Facies | Protein Binding | Female | Protein Interaction Domains and Motifs | Mutation | Child | Amino Acid Substitution | Neurodevelopmental Disorders - diagnosis | Clinical trials | Medicine, Experimental | Medical research | Genetic aspects | Genetic disorders | Protein kinase C | Phenotypes | Intellectual disabilities | Phenotyping | Csnk2a1 gene | Children | Neurodevelopmental disorders | Swallowing | Kinases | Casein kinase II | Index Medicus
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
Molecular and cellular probes, ISSN 0890-8508, 10/2020, Volume 53, pp. 101625 - 101625
Colon cancer cells | Proliferation | CSNK2A1 | miR-1184 | Apoptosis | Biochemistry & Molecular Biology | Life Sciences & Biomedicine | Biotechnology & Applied Microbiology | Biochemical Research Methods | Science & Technology | Cell Biology | Colon cancer | Protein-protein interactions | Cancer cells | Index Medicus
Journal Article
Clinical genetics, ISSN 0009-9163, 04/2018, Volume 93, Issue 4, pp. 880 - 890
Journal Article
Cancer management and research, ISSN 1179-1322, 01/2019, Volume 11, pp. 10135 - 10143
Journal Article
Journal of human genetics, ISSN 1434-5161, 06/2018, Volume 63, Issue 6, pp. 779 - 781
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Prognosis | RNA Splice Sites - genetics | DNA Mutational Analysis | Humans | Retinal Dystrophies - pathology | Infant | Male | Casein Kinase II - genetics | Mutation | Retinal Dystrophies - genetics | Retinal degeneration | Csnk2a1 gene
Journal Article
American journal of medical genetics. Part A, ISSN 1552-4825, 01/2020, Volume 182, Issue 1, pp. 20 - 24
CSNK2A1 | Okur‐Chung neurodevelopmental syndrome | pituitary gland duplication | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Olfactory Bulb - pathology | Pituitary Gland - pathology | Humans | Child, Preschool | Neurodevelopmental Disorders - genetics | Casein Kinase II - genetics | Musculoskeletal Abnormalities - pathology | Mutation - genetics | Neurodevelopmental Disorders - pathology | Intellectual Disability - genetics | Intellectual Disability - diagnosis | Musculoskeletal Abnormalities - genetics | Female | Musculoskeletal Abnormalities - diagnosis | Neurodevelopmental Disorders - diagnosis | Vertebrae | Magnetic resonance imaging | Intellectual disabilities | Pituitary | Olfactory bulb | Mutation | Neurodevelopmental disorders | Index Medicus
Journal Article
EBioMedicine, ISSN 2352-3964, 11/2019, Volume 49, pp. 106 - 117
Pharmacogenomic profiles | CSNK2A1 | Wnt/β-catenin | KRAS mutations | MEK inhibitor | Lung adenocarcinoma | CK2 | Silmitasertib | EMT | Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Lung Neoplasms - genetics | Lung Neoplasms - drug therapy | Pharmacogenetics | Adenocarcinoma - pathology | Cell Proliferation | Signal Transduction | Proto-Oncogene Proteins p21(ras) - genetics | Humans | Mitogen-Activated Protein Kinase Kinases - antagonists & inhibitors | Extracellular Signal-Regulated MAP Kinases - antagonists & inhibitors | Lung Neoplasms - pathology | Extracellular Signal-Regulated MAP Kinases - metabolism | Molecular Targeted Therapy | Mutation - genetics | Mitogen-Activated Protein Kinase Kinases - metabolism | Neoplasm Metastasis | Genes, Dominant | Protein Kinase Inhibitors - therapeutic use | Cell Line, Tumor | Adenocarcinoma - genetics | Protein Kinase Inhibitors - pharmacology | Drug Resistance, Neoplasm - drug effects | Index Medicus
Journal Article