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Journal of human genetics, ISSN 1434-5161, 02/2019, Volume 64, Issue 2, pp. 161 - 170
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Phenotypes | Disease | Splicing | Congenital defects | Genomics | Genes | Amino acids | Consortia | Proteins | Databases | Protein folding | Trends | Mutation | Comparative analysis | Protein interaction | Cancer | Index Medicus
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Annals of the rheumatic diseases, ISSN 0003-4967, 01/2016, Volume 75, Issue 1, pp. e2 - E2
Life Sciences & Biomedicine | Rheumatology | Science & Technology | Gene Duplication | Chromosomes, Human, Pair 8 - genetics | Growth Differentiation Factor 6 - genetics | Hand Deformities, Congenital - genetics | Humans | Scleroderma, Systemic - genetics | Syndecan-2 - genetics | Female | Male | Ossification, Heterotopic - genetics | Joint Diseases - congenital | Scleroderma | Genotype & phenotype | Mutation | Index Medicus
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Annals of the rheumatic diseases, ISSN 0003-4967, 01/2016, Volume 75, Issue 1, pp. e2 - e2
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Presence of pathogenic copy number variants (CNVs) is correlated with socioeconomic status
Journal of medical genetics, ISSN 0022-2593, 01/2020, Volume 57, Issue 1, pp. 70 - 72
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Orphanet journal of rare diseases, ISSN 1750-1172, 2013, Volume 8, Issue 1, pp. 84 - 84
G-6-Pase | Congenital cardiac defects | G6PC3 | Ubiquitously expressed glucose-6-phosphatase enzyme | Dursun syndrome | Uro-genital anomalies | Severe congenital neutropenia type 4 | Prominent superficial venous pattern | G-6-Pase 3 | Neutropenia | Genetics & Heredity | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Glycogen Storage Disease Type I - physiopathology | Amino Acid Sequence | Glucose-6-Phosphatase - genetics | Heart Defects, Congenital - etiology | Humans | Leukopenia - genetics | Molecular Sequence Data | Hypertension, Pulmonary - genetics | Male | Sequence Analysis, DNA | Neutropenia - congenital | Glucose-6-Phosphatase - metabolism | Glycogen Storage Disease Type I - diagnosis | Glycogen Storage Disease Type I - epidemiology | Heart Defects, Congenital - genetics | Glycogen Storage Disease Type I - genetics | Female | Heart Septal Defects, Atrial - genetics | Mutation | Neutropenia - genetics | Glucose-6-Phosphatase - chemistry | Hypertension | Inflammatory bowel disease | Genotype & phenotype | Bacterial infections | Hematology | Genes | Ear diseases | Glucose | Patients | Index Medicus
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Nature communications, ISSN 2041-1723, 02/2021, Volume 12, Issue 1, pp. 833 - 833
RNA-Binding Proteins - genetics | Protein Biosynthesis | Microcephaly - genetics | Developmental Disabilities - metabolism | Saccharomyces cerevisiae - genetics | Humans | Peptides - genetics | Ribosomes - metabolism | Male | Saccharomyces cerevisiae - drug effects | Developmental Disabilities - genetics | Peptide Initiation Factors - deficiency | Micrognathism - pathology | Saccharomyces cerevisiae - metabolism | Micrognathism - metabolism | Developmental Disabilities - pathology | Peptides - metabolism | Gene Expression Regulation, Developmental | Microcephaly - pathology | Female | Lysine - metabolism | Protein Isoforms - deficiency | Child | Amino Acid Sequence | Lysine - analogs & derivatives | Zebrafish Proteins - metabolism | Micrognathism - genetics | Microcephaly - metabolism | Zebrafish | Saccharomyces cerevisiae Proteins - genetics | Sequence Homology, Amino Acid | Peptide Initiation Factors - genetics | Lysine - genetics | Sequence Alignment | Animals | Ribosomes - genetics | Spermidine - pharmacology | Adolescent | Embryo, Nonmammalian | Saccharomyces cerevisiae Proteins - metabolism | Protein Conformation | Zebrafish Proteins - genetics | Saccharomyces cerevisiae - growth & development | Protein Isoforms - genetics | Yeasts | Phenotypes | Profiling | Yeast | Proline | Amino acids | Protein biosynthesis | Proteins | Microencephaly | Protein synthesis | Spermidine | Supplementation | Stalling | Index Medicus
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American journal of medical genetics. Part A, ISSN 1552-4825, 03/2019, Volume 179, Issue 3, pp. 507 - 511
epilepsy | intellectual difficulty | developmental delay | X‐linked inheritance | CDKL5 | X-linked inheritance | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Epilepsy, Generalized - genetics | Frameshift Mutation | Humans | Protein-Serine-Threonine Kinases - genetics | Male | Developmental Disabilities - genetics | Electroencephalography | Phenotype | Comparative Genomic Hybridization | DNA Mutational Analysis | Pedigree | Adolescent | Adult | Female | Epilepsy, Generalized - diagnosis | Developmental Disabilities - diagnosis | Infant, Newborn | Maternal Inheritance | Epilepsy | Seizures (Medicine) | Convulsions & seizures | Inheritances | Heredity | Encephalopathy | Phenotypic variations | Index Medicus
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Journal of medical genetics, ISSN 0022-2593, 02/2019, Volume 56, Issue 2, pp. 89 - 95
KMT2D | MAKE-UP-SYNDROME | MUTATIONS | EARS | KDM6A | Kdm6a | Kmt2d | kabuki syndrome | kabuki make-up syndrome | consensus diagnostic criteria | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Abnormalities, Multiple - etiology | Face - abnormalities | Humans | Male | DNA-Binding Proteins - genetics | Histone Demethylases - genetics | Consensus | Hematologic Diseases - diagnosis | Vestibular Diseases - etiology | Muscle Hypotonia - etiology | Hematologic Diseases - etiology | Abnormalities, Multiple - diagnosis | Hematologic Diseases - genetics | Female | Intellectual Disability - etiology | Mutation | Vestibular Diseases - diagnosis | Vestibular Diseases - genetics | Neoplasm Proteins - genetics | Abnormalities, Multiple - genetics | Genotype & phenotype | Eyelid | Congenital defects | Intellectual disabilities | Genes | DNA methylation | Diagnosis | Genetic screening | Index Medicus
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American journal of medical genetics. Part A, ISSN 1552-4825, 01/2021, Volume 185, Issue 1, pp. 196 - 202
microcephaly | seizures | developmental delay | 16p13.3 deletion | ATP6V0C | autism | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Autism | Seizures (Medicine) | Epilepsy | Analysis | Protein-protein interactions | Animal models | Phenotypes | Transcription | Epistasis | Neurodevelopmental disorders | Microcephaly | Haploinsufficiency | Proteins | Microencephaly | Coding | Seizures
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Immunity (Cambridge, Mass.), ISSN 1074-7613, 06/2015, Volume 42, Issue 6, pp. 1185 - 1196
Life Sciences & Biomedicine | Immunology | Science & Technology | Amino Acid Sequence | Gene Frequency | Humans | Autoimmunity - genetics | Child, Preschool | Molecular Sequence Data | Male | Penetrance | Transcription Factors - genetics | DNA Mutational Analysis - methods | Mutation - genetics | Microsatellite Repeats - genetics | Russia | Young Adult | Organ Specificity - genetics | Phenotype | Norway | Pedigree | Adolescent | Adult | Female | Polyendocrinopathies, Autoimmune - genetics | Child | Genes, Dominant - genetics | Autoimmunity | Medical colleges | Children's hospitals | Analysis | Medical genetics | Genetic aspects | Gene expression | Proteins | Disease | Baldness | Lymphocytes | Enamel | Genomes | Mutation | Autoimmune diseases | Patients | Index Medicus
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Muscle & nerve, ISSN 0148-639X, 11/2012, Volume 46, Issue 5, pp. 698 - 704
neuropathy | electrophysiology | corneal nerves | C‐fiber | CMT1A | corneal confocal microscopy | C-fiber | Electrophysiology | Neuropathy | Corneal nerves | Corneal confocal microscopy | Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Nerve Fibers, Unmyelinated - pathology | Pain Measurement - methods | Humans | Middle Aged | Adult | Female | Male | Cornea - pathology | Charcot-Marie-Tooth Disease - physiopathology | Charcot-Marie-Tooth Disease - pathology | Microscopy, Confocal - methods | Microscope and microscopy | Disease | Index Medicus
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Brain (London, England : 1878), ISSN 0006-8950, 09/2020, Volume 143, Issue 9, pp. e77 - 2
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Clinical genetics, ISSN 0009-9163, 07/2019, Volume 96, Issue 1, pp. 72 - 84
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