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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
Nature genetics, ISSN 1061-4036, 2014, Volume 46, Issue 4, pp. 385 - 388
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Humans | Models, Molecular | Molecular Sequence Data | United Kingdom | DNA (Cytosine-5-)-Methyltransferases - chemistry | Mutation - genetics | Sequence Analysis, DNA | Syndrome | Intellectual Disability - genetics | DNA (Cytosine-5-)-Methyltransferases - metabolism | DNA (Cytosine-5-)-Methyltransferases - genetics | Exome - genetics | Base Sequence | Protein Conformation | Gene Components | Histones - metabolism | Growth Disorders - genetics | Abnormalities, Multiple - genetics | Gene mutations | Identification and classification | Methods | Exome sequencing | DNA methylation | Medical research | Mutation | Mental retardation | Genes | Index Medicus
Journal Article
Genome research, ISSN 1088-9051, 02/2019, Volume 29, Issue 2, pp. 159 - 170
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Genome research, ISSN 1088-9051, 07/2019, Volume 29, Issue 7, pp. 1057 - 1066
Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | Biotechnology & Applied Microbiology | Science & Technology | Morphogenesis - genetics | Epigenesis, Genetic | Face - abnormalities | Humans | Male | Syndrome | Intellectual Disability - genetics | Young Adult | Amish - genetics | DNA (Cytosine-5-)-Methyltransferases - genetics | DNA Methylation | Aging - genetics | Methyltransferases | Adolescent | Hematologic Diseases - genetics | Adult | Mutation | Vestibular Diseases - genetics | Growth Disorders - genetics | Child | Abnormalities, Multiple - genetics | Leukemia, Myeloid, Acute - genetics | Morphogenesis | Phenotypes | Congenital defects | DNA methylation | Aging | Epigenetics | Histone methyltransferase | DNA methyltransferase | Genomes | Malignancy | Deoxyribonucleic acid--DNA | Index Medicus | Research
Journal Article
Genetics in medicine, ISSN 1098-3600, 09/2020, Volume 23, Issue 1, pp. 237 - 237
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British journal of cancer, ISSN 0007-0920, 02/2020, Volume 122, Issue 3, pp. 329 - 332
Journal Article
Journal of medical genetics, ISSN 0022-2593, 2019, Volume 56, Issue 7, pp. 444 - 452
Naa10 | polyadenylation signal | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Haplotypes | Genomics | N-Acetyltransferase | mRNA | Genomes | Gene expression | Males | Genetic screening | Databases | Genetic analysis | Polyadenylation | Genetics | Acetyltransferase | Mutation | Anophthalmia | Deoxyribonucleic acid--DNA | Microphthalmia | Linkage analysis | Index Medicus
Journal Article
Genetics in medicine, ISSN 1098-3600, 2020, Volume 23, Issue 1, pp. 149 - 154
Journal Article
European journal of human genetics : EJHG, ISSN 1018-4813, 09/2015, Volume 23, Issue 9, pp. 1165 - 1170
BLEPHAROPHIMOSIS | OHDO SYNDROME | DE-NOVO MUTATIONS | MENTAL-RETARDATION | HISTONE ACETYLTRANSFERASE KAT6B | CAUSE GENITOPATELLAR SYNDROME | Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | Scrotum - abnormalities | Kidney - pathology | Exons | Humans | Joint Instability - genetics | Child, Preschool | Histone Acetyltransferases - genetics | Joint Instability - pathology | Blepharophimosis - pathology | Male | Intellectual Disability - genetics | Exome | Blepharophimosis - genetics | Heart Defects, Congenital - genetics | Psychomotor Disorders - genetics | Congenital Hypothyroidism - diagnosis | DNA Mutational Analysis | Blepharophimosis - diagnosis | Congenital Hypothyroidism - genetics | Facies | Patella - abnormalities | Craniofacial Abnormalities - pathology | Female | Scrotum - pathology | Craniofacial Abnormalities - genetics | Severity of Illness Index | Diagnosis, Differential | Gene Expression | Joint Instability - diagnosis | Genetic Association Studies | Urogenital Abnormalities - diagnosis | Heart Defects, Congenital - pathology | Intellectual Disability - pathology | Psychomotor Disorders - pathology | Genotype | Patella - pathology | Phenotype | Urogenital Abnormalities - pathology | Craniofacial Abnormalities - diagnosis | Kidney - abnormalities | Intellectual Disability - diagnosis | Psychomotor Disorders - diagnosis | Congenital Hypothyroidism - pathology | Heart Defects, Congenital - diagnosis | Mutation | Urogenital Abnormalities - genetics | Pediatrics | Phenotypes | Congenital diseases | Statistical analysis | Splicing | Intellectual disabilities | Thyroid gland | Blepharophimosis | Gene deletion | Defects | Haploinsufficiency | Medicine | Genotype & phenotype | Hospitals | Molecular modelling | Clonal deletion | Genetics | Genotypes | Thyroid | Index Medicus | Life Sciences | Human genetics | Medicin och hälsovetenskap
Journal Article
Molecular vision, ISSN 1090-0535, 2018, Volume 24, pp. 847 - 852
Biochemistry & Molecular Biology | Ophthalmology | Life Sciences & Biomedicine | Science & Technology | Oculocerebrorenal Syndrome - genetics | Oculocerebrorenal Syndrome - pathology | Humans | Cataract - pathology | Male | rab GTP-Binding Proteins - genetics | Protein Interaction Domains and Motifs | Binding Sites | Child | rab GTP-Binding Proteins - metabolism | Protein Conformation, alpha-Helical | Gene Expression | Phosphoric Monoester Hydrolases - genetics | Cataract - metabolism | Protein Folding | Hemizygote | Point Mutation | Phenotype | Protein Conformation, beta-Strand | Cataract - congenital | Pedigree | Oculocerebrorenal Syndrome - metabolism | Protein Binding | Cataract - genetics | rab GTP-Binding Proteins - chemistry | Phosphoric Monoester Hydrolases - metabolism | Amino Acid Substitution | Phosphoric Monoester Hydrolases - chemistry | Index Medicus
Journal Article
Clinical dysmorphology, ISSN 0962-8827, 10/2019, Volume 28, Issue 4, pp. 198 - 201
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Chromosome Deletion | Phenotype | Comparative Genomic Hybridization | Humans | Alleles | Chromosome Disorders - diagnosis | Infant | Male | Chromosomes, Human, Pair 12 | Genetic Markers | Chromosome Disorders - genetics | Syndrome | Index Medicus
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