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Molecular and cellular endocrinology, ISSN 0303-7207, 01/2021, Volume 520, pp. 111076 - 111076
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
International journal of molecular sciences, ISSN 1422-0067, 08/2019, Volume 20, Issue 15, p. 3621
Biochemistry & Molecular Biology | Physical Sciences | Chemistry | Life Sciences & Biomedicine | Chemistry, Multidisciplinary | Science & Technology | Munc18 Proteins - genetics | Receptors, GABA - genetics | Humans | Protein-Serine-Threonine Kinases - genetics | Forkhead Transcription Factors - genetics | Nerve Tissue Proteins - genetics | Methyl-CpG-Binding Protein 2 - genetics | Rett Syndrome - physiopathology | Intellectual Disability - genetics | Whole Exome Sequencing | Intellectual Disability - physiopathology | Young Adult | Phenotype | Receptors, GABA-A - genetics | Adolescent | Adult | Female | High-Throughput Nucleotide Sequencing | Mutation | Rett Syndrome - genetics | Child | TOR protein | Alternative splicing | Transcription | γ-Aminobutyric acid A receptors | Exons | Epilepsy | Genes | AKT protein | Kinases | Proteins | Genotype & phenotype | Convulsions & seizures | Methyl-CpG binding protein | Peripheral blood | DNA methylation | miRNA | Deoxyribonucleic acid--DNA | Phenotypes | Congenital diseases | Splicing | AMP | Cyclin-dependent kinases | Ribonucleic acid--RNA | Patients | Pathogenicity | MeCP2 protein | Genetic testing | Methylation | Index Medicus | GABAa receptors genes | atypical RTT | NGS | STXBP1
Journal Article
Brain (London, England : 1878), ISSN 0006-8950, 02/2020, Volume 143, Issue 2, pp. 441 - 451
Journal Article
Frontiers in cell and developmental biology, ISSN 2296-634X, 11/2020, Volume 8, pp. 591781 - 591781
Journal Article
Anales de pediatría (Barcelona, Spain : 2003), ISSN 1695-4033, 02/2020, Volume 92, Issue 2, pp. 71 - 78
Journal Article
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Full Text
Characteristics of people with the STXBP1 syndrome in Spain: Implications for diagnosis
Anales de Pediatría, ISSN 2341-2879, 02/2020, Volume 92, Issue 2, pp. 71 - 78
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
Endocrinology (Philadelphia), ISSN 0013-7227, 05/2020, Volume 161, Issue 5
Stxbp1 | enteroendocrine | GLP-1 | glucagon | exocytosis | Munc18-1 | SNARE | Circadian rhythms | Chromatin | Immunoprecipitation | Peptides | Glucagon | SNAP receptors | CLOCK protein | Circadian rhythm | Exocytosis | Cytosol | Proteins | Beta cells | Syntaxin | Intestine | BMAL1 protein | Pancreas | Glucagon-like peptide 1 | Index Medicus | Abridged Index Medicus
Journal Article
EMBO molecular medicine, ISSN 1757-4676, 01/2021, Volume 13, Issue 1, pp. e12354 - n/a
Journal Article
Neurología (Barcelona, Spain), ISSN 0213-4853, 10/2016, Volume 31, Issue 8, pp. 523 - 527
Journal Article