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Journal of medical genetics, ISSN 0022-2593, 11/2016, Volume 53, Issue 11, pp. 761 - 767
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Care and treatment | Genetic disorders | Research | Risk factors | Mutation (Biology) | Molecular genetics | next-generation sequencing | inherited retinal dystrophy | bioinformatics | retinitis pigmentosa | 1506 | Genotype-Phenotype Correlations
Journal Article
American journal of human genetics, ISSN 0002-9297, 05/2011, Volume 88, Issue 5, pp. 616 - 620
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | General aspects. Genetic counseling | Otorhinolaryngology. Stomatology | Non tumoral diseases | Medical genetics | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Facial bones, jaws, teeth, parodontium: diseases, semeiology | Exons | Humans | Gene Expression Regulation | Dental Enamel Proteins - genetics | Amelogenesis Imperfecta - genetics | Genetic Heterogeneity | Syndrome | Ameloblasts - metabolism | Homozygote | Chromosomes, Human, Pair 17 | Pedigree | Gingival Hyperplasia - pathology | Polymorphism, Single Nucleotide | Amelogenesis Imperfecta - pathology | Mutation | Genetic research | Genetic aspects | Research | Gene mutations | Amelogenesis imperfecta | Hyperplasia | Congenital diseases | Enamel | Teeth | Genomes | Gene expression | Polymorphism | Index Medicus | Report
Journal Article
American journal of human genetics, ISSN 0002-9297, 07/2011, Volume 89, Issue 1, pp. 148 - 153
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | General aspects. Genetic counseling | Medical genetics | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Cell Line | Gene Expression | Muscle Hypotonia - genetics | Cytoskeletal Proteins - genetics | Humans | Child, Preschool | Infant | Male | Reverse Transcriptase Polymerase Chain Reaction | Intellectual Disability - genetics | Cullin Proteins - genetics | Spine - abnormalities | Dwarfism - genetics | Homozygote | Cullin Proteins - metabolism | Cytoskeletal Proteins - metabolism | Female | Transcription Factors | Mutation | Dwarfism | Care and treatment | Usage | Analysis | Causes of | Genetic aspects | Nucleotide sequencing | Gene expression | Genetic disorders | Mammals | Index Medicus | Report
Journal Article
Nature genetics, ISSN 1061-4036, 03/2013, Volume 45, Issue 3, pp. 295 - 298
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Chromosome Deletion | Meningeal Neoplasms - genetics | Chromosomal Proteins, Non-Histone - metabolism | Humans | Middle Aged | Molecular Sequence Data | Male | Meningioma - genetics | Neurofibromatosis 2 - genetics | DNA-Binding Proteins - genetics | Loss of Heterozygosity | Chromosomal Proteins, Non-Histone - genetics | DNA-Binding Proteins - metabolism | Meningioma - pathology | Base Sequence | Adolescent | Adult | Female | Neurofibromatosis 2 - metabolism | Polymorphism, Single Nucleotide | Meningeal Neoplasms - pathology | Mutation | Gene mutations | Genetic susceptibility | Physiological aspects | Development and progression | Genetic aspects | Research | Meningioma | Studies | Medical research | Biomedical research | Womens health | Lymphocytes | Histology | Deoxyribonucleic acid--DNA | Tumors | Index Medicus
Journal Article
Nature genetics, ISSN 1061-4036, 11/2012, Volume 44, Issue 11, pp. 1243 - 1248
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Neurology | Biological and medical sciences | Malformations of the nervous system | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Gene Expression | Signal Transduction | Adenosine Deaminase - genetics | Humans | Structure-Activity Relationship | RNA-Binding Proteins | Sequence Analysis, DNA | Exome | Animals | Autoimmune Diseases of the Nervous System - genetics | RNA, Double-Stranded - genetics | Interferon Type I - genetics | Interferon Type I - metabolism | Protein Conformation | Mice | RNA, Double-Stranded - metabolism | Mutation | Nervous System Malformations - genetics | Alu Elements - genetics | Gene mutations | RNA | Aicardi syndrome | Physiological aspects | Genetic aspects | Interferon | Adenosine deaminase | Research | Health aspects | Risk factors | Proteins | Medical research | Genetics | Index Medicus
Journal Article
Archives of disease in childhood, ISSN 0003-9888, 11/2017, Volume 102, Issue 11, pp. 1019 - 1029
Inborn Errors of Metabolism | Metabolic disorders | Next Generation Sequencing | Life Sciences & Biomedicine | Pediatrics | Science & Technology | Young Adult | Metabolism, Inborn Errors - diagnosis | Humans | Adolescent | Child, Preschool | Female | Infant | Male | High-Throughput Nucleotide Sequencing - methods | Child | Metabolism, Inborn Errors - genetics | Metabolism, Inborn errors of | Usage | Gene mutations | Nucleotide sequencing | Research | Diagnosis | DNA sequencing | Urine | Genetic disorders | Inborn errors of metabolism | Genomics | Genes | Genomes | Hypoglycemia | Metabolism | Medical screening | Medical diagnosis | Genetic screening | Custom design | Accuracy | Clinical medicine | Children | Mutation | Index Medicus | Abridged Index Medicus
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A paradigm shift in the delivery of services for diagnosis of inherited retinal disease
Journal of medical genetics, ISSN 0022-2593, 05/2012, Volume 49, Issue 5, pp. 322 - 326
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Gynecology. Andrology. Obstetrics | Delivery. Postpartum. Lactation | Medical genetics | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Molecular Diagnostic Techniques - methods | Humans | Retinitis Pigmentosa - genetics | Male | Genes, Recessive | Usher Syndromes - diagnosis | Retinitis Pigmentosa - diagnosis | Usher Syndromes - genetics | Delivery of Health Care | Pedigree | Sensitivity and Specificity | Female | Polymorphism, Single Nucleotide | Retrospective Studies | Mutation | Sequence Analysis, DNA - methods | Usage | Nucleotide sequencing | Research | Gene mutations | Gene expression | DNA sequencing | Index Medicus
Journal Article
American journal of human genetics, ISSN 0002-9297, 01/2012, Volume 90, Issue 1, pp. 69 - 75
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | General aspects. Genetic counseling | Medical genetics | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Cleft Palate - diagnosis | Skin Abnormalities | Cleft Lip - diagnosis | Exons | Humans | Molecular Sequence Data | Male | Cleft Palate - genetics | Genetic Loci | Phosphoproteins - metabolism | Pterygium - genetics | Exome | Base Sequence | Child | Craniofacial Abnormalities - genetics | Severity of Illness Index | Amino Acid Sequence | Tumor Suppressor Proteins - metabolism | Protein-Serine-Threonine Kinases - genetics | Genes, Recessive | Transcription Factors - metabolism | Cleft Lip - genetics | Animals | Keratinocytes - metabolism | Trans-Activators - metabolism | Consanguinity | Mice | Mutation | Pterygium - congenital | Pterygium - diagnosis | Usage | Research | Genetic transcription | Gene mutations | Exome sequencing | Proteins | Genetic research | Congenital diseases | Genetic disorders | Gene expression | Index Medicus | Report
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Personalized Diagnosis and Management of Congenital Cataract by Next-Generation Sequencing
Ophthalmology (Rochester, Minn.), ISSN 0161-6420, 2014, Volume 121, Issue 11, pp. 2124 - 2137.e2
Ophthalmology | Life Sciences & Biomedicine | Science & Technology | Genetic Testing | Introns - genetics | Genetic Association Studies | Cataract - diagnosis | Humans | Child, Preschool | Exons - genetics | Infant | Male | DNA - genetics | Cataract - congenital | DNA Mutational Analysis | Pedigree | Adolescent | Cataract - genetics | Female | High-Throughput Nucleotide Sequencing | Eye Proteins - genetics | Mutation | Child | Precision Medicine | Care and treatment | Cataract | Genetic disorders | Hospitals | Diagnosis | Index Medicus
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