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Seizure (London, England), ISSN 1059-1311, 02/2021, Volume 85, pp. 151 - 154
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
European journal of human genetics : EJHG, ISSN 1018-4813, 06/2017, Volume 25, Issue 6, pp. 694 - 701
Journal Article
American journal of medical genetics. Part A, ISSN 1552-4825, 03/2021, Volume 185, Issue 3, pp. 710 - 718
Journal Article
Neurobiology of disease, ISSN 0969-9961, 03/2018, Volume 111, pp. 138 - 152
Autism | TrkB | Intellectual disability | BDNF | ANKRD11 | Dendritic spine | Histone acetylation | Arborization | Dendrite | Neurosciences | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Epigenetic inheritance | Methyltransferases | RNA | Neurons | Tumor proteins | Index Medicus | arborization | dendrite | dendritic spine | histone acetylation | autism | intellectual disability
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
Bone (New York, N.Y.), ISSN 8756-3282, 06/2019, Volume 123, pp. 18 - 22
KBG syndrome | Brachydactyly type E | Skeletal disorder | ANKRD11 gene | Life Sciences & Biomedicine | Endocrinology & Metabolism | Science & Technology | Epigenetic inheritance | Medical colleges | Medical research | Anopheles | Genomics | Medicine, Experimental | Research institutes | Nucleotide sequencing | Chromosomes | DNA sequencing | Index Medicus
Journal Article
American journal of medical genetics. Part A, ISSN 1552-4825, 05/2020, Volume 182, Issue 5, pp. 1073 - 1083
16q24 deletion | KBG syndrome | macrodontia | ANKRD11 gene | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Cornea | Congenital defects | Intellectual disabilities | Incisors | Arthritis | Dystrophy | Lipoma | Gene deletion | Corpus callosum | Conformation | Hereditary diseases | Index Medicus
Journal Article
Orphanet journal of rare diseases, ISSN 1750-1172, 12/2017, Volume 12, Issue 1, pp. 183 - 183
Journal Article
Clinical case reports, ISSN 2050-0904, 01/2018, Volume 6, Issue 1, pp. 189 - 191
Journal Article
Clinical genetics, ISSN 0009-9163, 01/2016, Volume 89, Issue 1, pp. 74 - 81
Cornelia de Lange syndrome | cohesin | KBG syndrome | ANKRD11 | whole exome sequencing | mosaicism | Mosaicism | Cohesin | Whole exome sequencing | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | De Lange Syndrome - diagnosis | Genetic Association Studies | Humans | Child, Preschool | Repressor Proteins - genetics | Male | Exome | Phenotype | Adolescent | Facies | Female | High-Throughput Nucleotide Sequencing | De Lange Syndrome - genetics | Genotype & phenotype | Genetic disorders | Mutation | Patients | Children | Index Medicus | Life Sciences | Human health and pathology
Journal Article
Epigenetics, ISSN 1559-2294, 08/2016, Volume 11, Issue 8, pp. 603 - 613