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Nature communications, ISSN 2041-1723, 2020, Volume 11, Issue 1, pp. 1 - 18
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Deregulation | Leukocyte migration | Nonsense mutation | Motor activity | Disorders | Microcephaly | Neurodevelopmental disorders | Reproduction (copying) | Attenuation | Protein transport | Kinesin | Pathogens | mRNA turnover | Abnormalities | Zebrafish | Nonsense-mediated mRNA decay | Corpus callosum | Haploinsufficiency | Pathogenicity | Microencephaly | Neural networks | Mutation | Intracellular | Transport | Cell migration | Index Medicus
Journal Article
Movement disorders, ISSN 0885-3185, 08/2020, Volume 35, Issue 8, pp. 1336 - 1345
enhancer | CNV | primary familial brain calcification | regulation | SLC20A2 | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Polymerase chain reaction | CRISPR | RNA-directed DNA polymerase | Mental disorders | Nonsense mutation | Copy number | Genes | Calcification | Stop codon | Microvasculature | Gene deletion | Haploinsufficiency | Index Medicus
Journal Article
Clinical genetics, ISSN 0009-9163, 07/2020, Volume 98, Issue 1, pp. 10 - 18
Journal Article
Clinical genetics, ISSN 0009-9163, 11/2020, Volume 98, Issue 5, pp. 433 - 444
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Clinical genetics, ISSN 0009-9163, 12/2020, Volume 98, Issue 6, pp. 620 - 621
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The Journal of pediatrics, ISSN 0022-3476, 2017, Volume 185, pp. 160 - 166.e1
Pediatrics | chromosomal microarray | CNV | corpus callosum | SNP array | agenesis of corpus callosum | dysgenesis of corpus callosum | Life Sciences & Biomedicine | Science & Technology | Prospective Studies | Chromosome Duplication | Humans | Child, Preschool | Male | Zinc Finger E-box-Binding Homeobox 1 - genetics | DNA Copy Number Variations | Intellectual Disability - genetics | Young Adult | Chromosomes, Human, Pair 3 | Hedgehog Proteins - genetics | Microarray Analysis | Agenesis of Corpus Callosum - genetics | Cell Cycle Proteins - genetics | Adult | Female | Child | Chromosome Deletion | Basic Helix-Loop-Helix Transcription Factors - genetics | Chromosomes, Human, Pair 8 | Chromosomes, Human, Pair 7 | Chromosomes, Human, Pair 19 | Adolescent | Polymorphism, Single Nucleotide | Chromosomes, Human, Pair 10 | Analysis | Resveratrol | Index Medicus | Abridged Index Medicus | Life Sciences | Genetics
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Clinical genetics, ISSN 0009-9163, 04/2020, Volume 97, Issue 4, pp. 567 - 575
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American journal of medical genetics. Part A, ISSN 1552-4825, 02/2017, Volume 173, Issue 2, pp. 531 - 536
Timothy syndrome | mosaic mutation | CACNA1C | syndactyly | next‐generation sequencing | long‐QT | long-QT | next-generation sequencing | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Autistic Disorder - genetics | Genetic Association Studies | Humans | Long QT Syndrome - diagnosis | Phenotype | Calcium Channels, L-Type - genetics | Codon | DNA Mutational Analysis | Alleles | Electrocardiography | Long QT Syndrome - genetics | Female | Mosaicism | High-Throughput Nucleotide Sequencing | Mutation | Autistic Disorder - diagnosis | Child | Syndactyly - diagnosis | Amino Acid Substitution | Syndactyly - genetics | Analysis | Genes | Electrocardiogram | Genetic research | Genetic aspects | Nucleotide sequencing | DNA sequencing | EKG | Heart | Phenotypes | Missense mutation | Surgery | Syndactyly | KCNQ1 protein | Potassium channels (voltage-gated) | Diagnosis | Index Medicus | Life Sciences | Genetics
Journal Article
Prenatal diagnosis, ISSN 0197-3851, 08/2019, Volume 39, Issue 9, pp. 806 - 810
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American journal of medical genetics. Part A, ISSN 1552-4825, 04/2020, Volume 182, Issue 4, pp. 792 - 797
exome sequencing | intellectual disability | KIAA1033/WASHC4 | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Humans | Intellectual Disability - pathology | Child, Preschool | Male | Intellectual Disability - genetics | Phenotype | Pedigree | Adult | Female | Mutation | Intracellular Signaling Peptides and Proteins - genetics | Infant, Newborn | Protein Subunits - genetics | Literature reviews | Phenotypes | Microencephaly | Intellectual disabilities | Tubules | Intermediates | Nodules | Hearing loss | Index Medicus
Journal Article
Human mutation, ISSN 1059-7794, 12/2019, Volume 40, Issue 12, pp. 2430 - 2443
pipeline | mtDNA | ES data | bioinformatics | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Computational Biology - methods | Humans | Middle Aged | Child, Preschool | Infant | Male | Developmental Disabilities - genetics | Nervous System Diseases - genetics | Nervous System Diseases - diagnosis | Whole Exome Sequencing - methods | Genetic Variation | Young Adult | DNA, Mitochondrial - genetics | Adolescent | Aged, 80 and over | Adult | Female | Aged | Child | Developmental Disabilities - diagnosis | Early Diagnosis | Infant, Newborn | Leber's optic atrophy | Deafness | Phenotypes | Nucleotide sequence | Optic neuropathy | Ataxia | Genomes | Mitochondrial DNA | Neuropathy | Diagnosis | Bioinformatics | DNA sequencing | Index Medicus | Life Sciences
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