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European journal of medical genetics, ISSN 1769-7212, 01/2021, Volume 64, Issue 1, pp. 104121 - 104121
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Journal of cell science, ISSN 0021-9533, 04/2013, Volume 126, Issue 8, pp. 1744 - 1752
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Neuroscience research, ISSN 0168-0102, 04/2020
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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
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Life sciences (1973), ISSN 0024-3205, 10/2020, Volume 258, pp. 118227 - 118227
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Mild epileptic phenotype associates with de novo eef1a2 mutation: Case report and review
Brain & development (Tokyo. 1979), ISSN 0387-7604, 01/2020, Volume 42, Issue 1, pp. 77 - 82
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Human mutation, ISSN 1059-7794, 07/2020, Volume 41, Issue 7, pp. 1263 - 1279
epilepsy | dyskinesia | de novo | yeast complementation assay | EEF1A2 | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Atrophy | Cerebellum | Proteins | Choreoathetosis | Protein synthesis | Intellectual disabilities | Epilepsy | Encephalopathy | Cytotoxicity | Protein biosynthesis | Dystonia | Haploinsufficiency | Index Medicus
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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
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Epilepsy & behavior, ISSN 1525-5050, 04/2020, Volume 105, pp. 106955 - 106955
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International journal of pharmaceutics, ISSN 0378-5173, 06/2017, Volume 525, Issue 2, pp. 367 - 376
E2F1 | HCC | siRNA | eEF1A2 | eEF1A1 | Liposome delivery | Liposomes - chemistry | Humans | Protein Isoforms | Liver Neoplasms - metabolism | Cell Line, Tumor | RNA, Small Interfering - administration & dosage | Peptide Elongation Factor 1 - metabolism | Carcinoma, Hepatocellular - metabolism | Protein biosynthesis | Hepatoma | Index Medicus
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The role of translation elongation factor eEF1 subunits in neurodevelopmental disorders
Human mutation, ISSN 1059-7794, 02/2019, Volume 40, Issue 2, pp. 131 - 141
EEF1B2 | neurodevelopment | VARS | EEF1D | EEF1A2 | protein synthesis | synaptic translation | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Autistic Disorder - genetics | Autistic Disorder - pathology | Guanine Nucleotide Exchange Factors - genetics | Humans | Intellectual Disability - pathology | Neurodevelopmental Disorders - genetics | Neurodevelopmental Disorders - pathology | Intellectual Disability - genetics | Epilepsy - genetics | Mutation | Peptide Elongation Factor 1 - genetics | Valine-tRNA Ligase - genetics | Epilepsy - pathology | Autism | Guanosine triphosphate | tRNA | Protein synthesis | Translation elongation | Epilepsy | Isoforms | Protein biosynthesis | Neurodevelopmental disorders | Index Medicus
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