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American journal of human genetics, ISSN 0002-9297, 08/2012, Volume 91, Issue 2, pp. 358 - 364
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Medical genetics | Abnormalities, Multiple - pathology | Haploinsufficiency - genetics | Hypertrichosis - congenital | Growth Disorders - pathology | Histone-Lysine N-Methyltransferase | Humans | Molecular Sequence Data | Mutation - genetics | Sequence Analysis, DNA | Exome - genetics | Hypertrichosis - genetics | Myeloid-Lymphoid Leukemia Protein - genetics | Base Sequence | Hypertrichosis - pathology | Gene Components | Growth Disorders - genetics | Abnormalities, Multiple - genetics | Body hair | Gene mutations | Growth | Proteus syndrome | Histones | Hypertrichosis | Causes of | Genetic aspects | Research | Diagnosis | Health aspects | Proteins | Genotype & phenotype | Genetic disorders | Mutation | Mental disorders | Index Medicus | Hair | Enzymes | Body height | MLL protein | histone methyltransferase | Transcription | Catalysis | Methylation | Elbow | Mental retardation | Report
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Neuron (Cambridge, Mass.), ISSN 0896-6273, 2006, Volume 52, Issue 5, pp. 767 - 774
HUMDISEASE | MOLNEURO | SIGNALING | Neurosciences | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Neuralgia - genetics | Genetic Linkage - physiology | Humans | Analgesics, Non-Narcotic - pharmacology | NAV1.7 Voltage-Gated Sodium Channel | Electrophysiology | Molecular Sequence Data | Sodium Channels - physiology | Genetic Variation | Mutation - physiology | Transfection | DNA Mutational Analysis | Cloning, Molecular | Neuralgia - physiopathology | Amino Acid Sequence | Carbamazepine - pharmacology | Cell Line | Genotype | Chromosome Mapping | Sodium Channels - drug effects | Patch-Clamp Techniques | Phenotype | Pedigree | Alleles | Sodium Channels - genetics | Sodium Channel Blockers | Neurons | Analysis | Genomics | Gastrointestinal diseases | Genetic research | Genetic aspects | Somatoform disorders | Carbamazepine | Musculoskeletal system | Genomes | Pain | Mutation | Mutagenesis | Deoxyribonucleic acid--DNA | Index Medicus
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American journal of medical genetics. Part A, ISSN 1552-4825, 01/2021, Volume 185, Issue 1, pp. 15 - 25
leukoencephalopathy with calcifications and cysts | ribosomopathy | Labrune syndrome | coats plus | SNORD118 | C/D box snoRNA U8 | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Genetic research | Cysts | Leukoencephalopathy | Analysis | Genetic polymorphisms | Nucleoli | Phenotypes | Heterozygotes | Consanguinity | Nucleotides | Mutation | Gene polymorphism | Age | snoRNA | Index Medicus
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Nature genetics, ISSN 1061-4036, 2011, Volume 43, Issue 4, pp. 303 - 305
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Osteoporosis. Osteomalacia. Paget disease | Complex syndromes | Diseases of the osteoarticular system | Medical genetics | Biological and medical sciences | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Exons | Humans | DNA, Complementary - genetics | Mutant Proteins - genetics | Receptor, Notch2 - metabolism | Male | Mutant Proteins - metabolism | Receptor, Notch2 - genetics | Hajdu-Cheney Syndrome - metabolism | Hajdu-Cheney Syndrome - genetics | Hajdu-Cheney Syndrome - pathology | Protein Sorting Signals - genetics | DNA Mutational Analysis | Pedigree | Base Sequence | Alleles | Female | Mutation | Osteoporosis | Somatotropin | Care and treatment | Gene mutations | Physiological aspects | Genetic aspects | Research | Osteolysis | Health aspects | Risk factors | Studies | Medical research | Bone density | Genes | Index Medicus
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World neurosurgery, ISSN 1878-8750, 05/2019, Volume 125, pp. 271 - 272
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Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome
Nature genetics, ISSN 1061-4036, 2012, Volume 44, Issue 6, pp. 639 - 641
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Complex syndromes | Molecular genetics | Medical genetics | Biological and medical sciences | Chromatin. Chromosome | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Chromosome Deletion | Humans | Middle Aged | Male | Syndrome | Haploinsufficiency | Intellectual Disability - genetics | Chromosomes, Human, Pair 17 | Facies | Aging | Female | Aged | Smith-Magenis Syndrome | Mutation | Nuclear Proteins - genetics | Abnormalities, Multiple - genetics | Gene mutations | Genetic aspects | Research | Gene expression | Health aspects | Mental illness | Risk factors | Medical research | Brain | Chromatin | Insects | Experiments | Index Medicus
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The New England journal of medicine, ISSN 0028-4793, 01/2008, Volume 358, Issue 2, pp. 200 - 203
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Protein Kinases - metabolism | Sirolimus - therapeutic use | Tuberous Sclerosis - complications | Humans | Immunosuppressive Agents - therapeutic use | Kidney Diseases - drug therapy | Angiomyolipoma - drug therapy | Lymphangioleiomyomatosis - complications | Protein Kinase Inhibitors - therapeutic use | Angiomyolipoma - etiology | Immunosuppressive Agents - adverse effects | TOR Serine-Threonine Kinases | Kidney Diseases - etiology | Sirolimus - adverse effects | Clinical Trials, Phase II as Topic | Index Medicus | Abridged Index Medicus
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BMJ open, ISSN 2044-6055, 07/2019, Volume 9, Issue 7, pp. e028928 - e028928
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American journal of human genetics, ISSN 0002-9297, 05/2016, Volume 98, Issue 5, pp. 981 - 992
ACTA2 | iris | cerebellar ataxia | cerebellar hypoplasia | calcium | inositol triphosphate | ITPR1 | aniridia | cerebellar vermis | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Inositol 1,4,5-Trisphosphate Receptors - chemistry | Humans | Middle Aged | Aniridia - etiology | Cerebellar Ataxia - etiology | Male | Aniridia - pathology | Adult | Female | Child | Lymphocytes - metabolism | Cells, Cultured | Intellectual Disability - pathology | Cerebellar Ataxia - pathology | Mutation - genetics | Microscopy, Confocal | Lymphocytes - pathology | Animals | Pedigree | Adolescent | Protein Conformation | Mice | Intellectual Disability - etiology | Genes, Dominant - genetics | Inositol 1,4,5-Trisphosphate Receptors - genetics | Causes of | Genetic aspects | Gene mutations | Health aspects | Aniridia | Ataxia | Eye diseases | Genetic disorders | Mutation | Calcium | Genes | Index Medicus | Report
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American journal of human genetics, ISSN 0002-9297, 01/2018, Volume 102, Issue 1, pp. 175 - 187
KDM5B | histone lysine methyltransferase | KMT2C | histone lysine demethylase | KMT2B | Developmental disorders | chromatin remodeling | KMT5B | ASH1L | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Histone-Lysine N-Methyltransferase - genetics | Developmental Disabilities - enzymology | Humans | Adolescent | Child, Preschool | Female | Male | Developmental Disabilities - genetics | Mutation | Child | Histone Demethylases - genetics | Haploinsufficiency | Methyltransferases | Lysine | Analysis | Genomics | Cytogenetics | Methylation | Pediatric neurology | Index Medicus | Report
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