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BMC medical genomics, 10/2018, Volume 11, Issue 1
Journal Article
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
American journal of medical genetics. Part B, Neuropsychiatric genetics, ISSN 1552-4841, 01/2018, Volume 177, Issue 1, pp. 10 - 20
exome sequencing | NAA15 | PUF60 | intellectual disability | Genetics & Heredity | Life Sciences & Biomedicine | Psychiatry | Science & Technology | Humans | N-Terminal Acetyltransferase A - genetics | Repressor Proteins - genetics | Neurodevelopmental Disorders - genetics | RNA Splicing Factors - genetics | Whole Exome Sequencing - methods | RNA Splicing Factors - metabolism | Intellectual Disability - genetics | Intellectual Disability - metabolism | Exome | N-Terminal Acetyltransferase A - metabolism | N-Terminal Acetyltransferase E - genetics | Mutation | N-Terminal Acetyltransferase E - metabolism | Repressor Proteins - metabolism | Genetic research | Genes | Genetic aspects | Neonates | Neurodevelopmental disorders | Gene deletion | Coding | Intellectual disabilities | Index Medicus
Journal Article
Frontiers in oncology, ISSN 2234-943X, 10/2020, Volume 10, pp. 568015 - 568015
Journal Article
Oncotarget, ISSN 1949-2553, 05/2018, Volume 9, Issue 33, pp. 22929 - 22944
Journal Article
The FEBS journal, ISSN 1742-464X, 11/2006, Volume 273, Issue 21, pp. 4807 - 4816
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
中日友好医院学报, ISSN 1001-0025, 2017, Volume 31, Issue 1, pp. 3 - 6
Journal Article
Cancer management and research, ISSN 1179-1322, 2019, Volume 11, pp. 821 - 830
Journal Article
American journal of medical genetics. Part A, ISSN 1552-4825, 11/2020, Volume 182, Issue 11, pp. 2709 - 2714
PUF60 | vertebral abnormality | RNA‐seq | coloboma | nonsense‐mediated mRNA decay | Medicine, Experimental | Medical research | Deafness | RNA | Gene mutations | Analysis | Phenotypes | Intelligence | Segmentation | Exons | mRNA turnover | Central nervous system | Peripheral blood | Cognitive ability | Frameshift mutation | Mutation | Splicing factors | Index Medicus
Journal Article
Clinical rheumatology, ISSN 0770-3198, 6/2018, Volume 37, Issue 6, pp. 1573 - 1580
Idiopathic inflammatory myopathies | Clinically amyopathic dermatomyositis | Disease activity | Medicine & Public Health | Anti-PUF60 antibodies | Rheumatology | Life Sciences & Biomedicine | Science & Technology | Autoimmunity | Medical research | Somatotropin | Rheumatoid factor | Enzymes | Medical colleges | Care and treatment | Systemic lupus erythematosus | Medicine, Experimental | Arthritis | Protein binding | Immunoglobulins | Sjogren's syndrome | Autoantibodies | Dermatomyositis | Rheumatic diseases | Immunoblotting | Inflammation | Polymyositis | Correlation analysis | Rheumatoid arthritis | Myositis | Remission | Skin | Autoimmune diseases | Enzyme-linked immunosorbent assay | Myopathy | Index Medicus
Journal Article
Cancers, ISSN 2072-6694, 07/2020, Volume 12, Issue 7, pp. 1 - 19
Driver mutation | SF3B4 | Gel shift assay | Leukemia | Lariat branch point | 3′ splice site | PUF60 | U2AF2 | Exon inclusion | Pre-mRNA splicing | Differential scanning fluorimetry | MRNA | Functional genomics | Cancer | Life Sciences & Biomedicine | Oncology | Science & Technology | Cell culture | Exons | Glycerol | mRNA | Defects | Proteins | E coli | Plasmids | Site selection | Protein folding | Uridine | Protein expression | Mutation | Splicing factors | Deoxyribonucleic acid--DNA | lariat branch point | pre-mRNA splicing
Journal Article