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Journal of medical genetics, ISSN 0022-2593, 11/2014, Volume 51, Issue 11, pp. 724 - 736
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Molecular Diagnostic Techniques - methods | Humans | Child, Preschool | Infant | Male | DNA Mutational Analysis - methods | Intellectual Disability - genetics | Young Adult | Intellectual Disability - diagnosis | Adolescent | Adult | Female | High-Throughput Nucleotide Sequencing - methods | Child | Sequence Analysis, DNA - methods | Infant, Newborn | Index Medicus | mutation | causative | 1506 | intellectual disability | high-throughput sequencing | autism | Cognitive and Behavioural Genetics
Journal Article
Human genetics, ISSN 0340-6717, 2019, Volume 138, Issue 4, pp. 363 - 374
Journal Article
The journal of clinical endocrinology and metabolism, ISSN 0021-972X, 07/2018, Volume 103, Issue 7, pp. 2436 - 2446
Life Sciences & Biomedicine | Endocrinology & Metabolism | Science & Technology | Puberty | Development and progression | Genetic aspects | Russell-Silver syndrome | Methylation | Chromosomes | Health aspects | Body mass index | Genetic variance | Uniparental disomy | Growth rate | Imprinting | DNA methylation | Chromosome deletion | Chromosome 14 | Diagnosis | Preadipocyte factor 1 | Index Medicus | Abridged Index Medicus | Life Sciences | Human health and pathology | Pediatrics | Endocrinology and metabolism
Journal Article
Human mutation, ISSN 1059-7794, 03/2016, Volume 37, Issue 3, pp. 301 - 307
Weaver syndrome | childhood cancer | histone methyltransferase | H3K27 | EZH2 | Histone methyltransferase | Childhood cancer | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Enhancer of Zeste Homolog 2 Protein - genetics | Enhancer of Zeste Homolog 2 Protein - metabolism | Histone-Lysine N-Methyltransferase - genetics | Polycomb Repressive Complex 2 - genetics | Humans | Infant | Male | Congenital Hypothyroidism - enzymology | Hand Deformities, Congenital - enzymology | Hand Deformities, Congenital - genetics | Histone-Lysine N-Methyltransferase - metabolism | Craniofacial Abnormalities - enzymology | Congenital Hypothyroidism - genetics | Abnormalities, Multiple - enzymology | Female | Polycomb Repressive Complex 2 - metabolism | Abnormalities, Multiple - genetics | Craniofacial Abnormalities - genetics | Infant, Newborn | Histones | Amino acids | Genetic disorders | Methyltransferases | Methylation | Genotype & phenotype | Congenital diseases | Mutation | Binding sites | Polymorphism | Index Medicus | Life Sciences | Genetics | Human genetics
Journal Article
Prenatal diagnosis, ISSN 0197-3851, 05/2016, Volume 36, Issue 5, pp. 397 - 406
Genetics & Heredity | Life Sciences & Biomedicine | Obstetrics & Gynecology | Science & Technology | Receptor, Fibroblast Growth Factor, Type 3 - genetics | Achondroplasia - diagnosis | Humans | Prenatal Diagnosis | Mutation, Missense | Maternal Serum Screening Tests | Sequence Analysis, DNA | Case-Control Studies | DNA - blood | DNA - genetics | Pregnancy | Algorithms | Sensitivity and Specificity | Polymerase Chain Reaction | Female | Achondroplasia - blood | Achondroplasia - genetics | Genetic research | Pregnant women | DNA | Index Medicus | Life Sciences
Journal Article
Brain (London, England : 1878), ISSN 0006-8950, 2017, Volume 140, Issue 6, pp. 1579 - 1594
CACNA1A | Channelopathies | SPG7 | Cerebellar ataxia | Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Metalloendopeptidases - genetics | ATPases Associated with Diverse Cellular Activities | Channelopathies - physiopathology | Humans | Middle Aged | Child, Preschool | Genotype | Male | Young Adult | Cerebellar Ataxia - physiopathology | Channelopathies - genetics | Phenotype | Cerebellar Ataxia - genetics | Genes, Dominant | Adolescent | Age of Onset | Aged, 80 and over | Adult | Female | Aged | Calcium Channels - genetics | Child | Cohort Studies | Index Medicus | Abridged Index Medicus
Journal Article
European journal of human genetics : EJHG, ISSN 1018-4813, 02/2019, Volume 27, Issue 2, pp. 278 - 290
Heart Defects, Congenital/genetics | Loss of Function Mutation | Genetics(clinical) | Humans | Child, Preschool | Male | Transcription Factors/genetics | Syndrome | Journal Article | Research Support, N.I.H., Extramural | Intellectual Disability/genetics | Young Adult | Phenotype | Research Support, Non-U.S. Gov't | Adolescent | Homeodomain Proteins/genetics | Female | Heterozygote | Genetics | Cleft Palate/genetics | Child | Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | Homeodomain Proteins - metabolism | Heart Defects, Congenital - pathology | Intellectual Disability - pathology | Cleft Palate - genetics | Transcription Factors - genetics | Homeodomain Proteins - genetics | Intellectual Disability - genetics | Transcription Factors - metabolism | Heart Defects, Congenital - genetics | Cleft Palate - pathology | Heart | Phenotypes | Intellectual disabilities | Chromosome 15 | Gene deletion | Genotypes | Defects | Cleft lip/palate | Haploinsufficiency | Index Medicus | Next-generation sequencing | Genetic testing
Journal Article