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European journal of medical genetics, ISSN 1769-7212, 02/2019, Volume 62, Issue 2, pp. 109 - 114
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American journal of medical genetics. Part A, ISSN 1552-4825, 12/2017, Volume 173, Issue 12, pp. 3165 - 3171
3p25, SETD5 | aberrant blind ending bronchus | 3p microdeletion | loss of function | intellectual disability | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Chromosome Deletion | Frameshift Mutation | Loss of Function Mutation | Humans | Methyltransferases - genetics | Exons - genetics | Male | Developmental Disabilities - genetics | Intellectual Disability - genetics | Phenotype | Bronchi - abnormalities | Intellectual Disability - diagnosis | Heterozygote | Child | Developmental Disabilities - diagnosis | Chromosomes, Human, Pair 3 - genetics | Cohort Studies | Bronchus | DNA microarrays | Mutation | Growth rate | Intellectual disabilities | Heart diseases | Index Medicus
Journal Article
2017, Colloquium series on genomic and molecular medicine, ISBN 1615047441, 78
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American journal of medical genetics. Part A, ISSN 1552-4825, 05/2018, Volume 176, Issue 5, pp. 1238 - 1244
developmental delay | macrocephaly | seizure | array CGH | ZDHHC9 | X‐linked intellectual disability | X-linked intellectual disability | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Humans | Genetic Association Studies - methods | Genotype | Infant | Male | Acyltransferases - genetics | Mental Retardation, X-Linked - genetics | Phenotype | Comparative Genomic Hybridization | Pedigree | Mental Retardation, X-Linked - diagnosis | Adolescent | Alleles | Facies | Female | High-Throughput Nucleotide Sequencing | Mutation | Child | Cytogenetics | Family | Seizures (Medicine) | Gene mutations | Phenotypes | Zinc finger proteins | Gene deletion | Intellectual disabilities | Seizures | Index Medicus
Journal Article
Library philosophy and practice, 01/2019, pp. 1 - 9
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Exploring the association between SRPX2 variants and neurodevelopment: How causal is it?
Gene, ISSN 0378-1119, 02/2019, Volume 685, pp. 50 - 54
Rolandic epilepsy | Speech and language impairment | SRPX2 | Neurodevelopmental delay | FOXP2 | Seizures | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Speech Disorders - metabolism | Genetic Predisposition to Disease | Genetic Testing | Genetic Association Studies | Humans | Speech Disorders - genetics | Genotype | Infant | Male | Nerve Tissue Proteins - genetics | Speech Disorders - physiopathology | Exome | Genetic Variation | Nerve Tissue Proteins - metabolism | Neurogenesis - genetics | Alleles | High-Throughput Nucleotide Sequencing | Polymorphism, Single Nucleotide | Genetic disorders | Seizures (Medicine) | Language acquisition | Epilepsy | Analysis | Index Medicus
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Nature genetics, ISSN 1061-4036, 11/2015, Volume 47, Issue 11, pp. 1363 - 1369
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Genetic Predisposition to Disease - genetics | Humans | Genetic Association Studies - methods | Family Health | Genotype | Male | United Kingdom | Developmental Disabilities - genetics | Developmental Disabilities - classification | Genes, Recessive | Genetic Variation | Exome - genetics | Phenotype | Pedigree | Matrix Metalloproteinases, Secreted - genetics | Cell Cycle Proteins - genetics | Female | Protein-Arginine N-Methyltransferases - genetics | Ubiquitin-Protein Ligases - genetics | Sequence Analysis, DNA - methods | Disease susceptibility | Genetic aspects | Identification and classification | Familial diseases | Risk factors | Datasets | Mutation | Genes | Methods | Index Medicus
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Journal of human genetics, ISSN 1434-5161, 06/2015, Volume 60, Issue 6, pp. 313 - 317
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Chromosome Deletion | Genetic Association Studies | Humans | Growth Disorders - diagnosis | Child, Preschool | Male | Bone Diseases, Developmental - genetics | Comparative Genomic Hybridization | Feeding and Eating Disorders of Childhood - diagnosis | Feeding and Eating Disorders of Childhood - genetics | Growth Disorders - genetics | Bone Diseases, Developmental - diagnosis | Chromosomes, Human, Pair 20 - genetics | Phenotypes | Adipose tissue | Bone mass | Osteodystrophy | Chromosome 20 | Chromosome deletion | Hybridization | Gene deletion | Index Medicus
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American journal of medical genetics. Part A, ISSN 1552-4825, 07/2014, Volume 164, Issue 7, pp. 1713 - 1733
macrodactyly | fibroadipose overgrowth | somatic mosaicism | CLOVES syndrome | segmental overgrowth | PIK3CA gene | Segmental overgrowth | Macrodactyly | Somatic mosaicism | Fibroadipose overgrowth | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Humans | Middle Aged | Lipoma - genetics | Child, Preschool | Infant | Male | Young Adult | Organ Specificity - genetics | Nevus - genetics | Hyperplasia - genetics | Adult | Female | Musculoskeletal Abnormalities - diagnosis | Hyperplasia - diagnosis | Child | Infant, Newborn | Nevus - diagnosis | Genetic Association Studies | Adipose Tissue - pathology | Genotype | Phosphatidylinositol 3-Kinases - genetics | Phenotype | Class I Phosphatidylinositol 3-Kinases | Musculoskeletal Abnormalities - genetics | Adolescent | Age of Onset | Vascular Malformations - diagnosis | Mutation | Vascular Malformations - genetics | Lipoma - diagnosis | Skin diseases | Genetic disorders | Index Medicus
Journal Article
Journal of materials science. Materials in electronics, ISSN 0957-4522, 11/2020, Volume 32, Issue 1, pp. 590 - 603
Engineering | Physical Sciences | Materials Science | Technology | Materials Science, Multidisciplinary | Engineering, Electrical & Electronic | Physics, Condensed Matter | Physics | Science & Technology | Physics, Applied | Nanoparticles | Zinc oxide | Ferromagnetism | Engineering schools | Analysis | Magnetic properties | Dielectric loss | Wurtzite | X ray powder diffraction | Space charge | Charge transport | Magnetic transitions | Magnetic measurement | Zinc oxides | Chemical composition | Diamagnetism
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European journal of medical genetics, ISSN 1769-7212, 12/2020, Volume 63, Issue 12, pp. 104095 - 104095
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Journal of environmental management, ISSN 0301-4797, 09/2018, Volume 222, pp. 396 - 401
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American journal of medical genetics. Part A, ISSN 1552-4825, 01/2019, Volume 179, Issue 1, pp. 139 - 140
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Clinical dysmorphology, ISSN 0962-8827, 10/2018, Volume 27, Issue 4, pp. 113 - 115
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