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Genome medicine, ISSN 1756-994X, 12/2018, Volume 10, Issue 1, pp. 95 - 95
CDKL5 | Next-generation sequencing | Genome sequencing | Complex structural variant | HNRNPU | Nanopore | ARID1B | CEP78 | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Epigenetic inheritance | Usage | Research | Nucleotide sequencing | Genetic variation | DNA sequencing | Breakpoints | Congenital diseases | Genomics | Inversion | Identification | Genomes | Gene expression | Gene deletion | Studies | Pathogenicity | Alleles | Chromosomes | Deoxyribonucleic acid--DNA | Index Medicus
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Nucleic acids research, ISSN 0305-1048, 01/2015, Volume 43, Issue 1, pp. D1113 - D1116
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Journal of thrombosis and haemostasis, ISSN 1538-7933, 08/2019, Volume 17, Issue 8, pp. 1253 - 1260
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Nucleic acids research, ISSN 0305-1048, 01/2014, Volume 42, Issue 1, pp. D926 - D932
Life Sciences & Biomedicine | Biochemistry & Molecular Biology | Science & Technology | Proteins - genetics | Proteins - metabolism | Sequence Analysis, RNA | Oligonucleotide Array Sequence Analysis | Genomics | Humans | RNA Isoforms - metabolism | Databases, Genetic | Gene Expression Profiling | Internet | Index Medicus | V. Human genome, model organisms, comparative genomics
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Cell (Cambridge), ISSN 0092-8674, 11/2016, Volume 167, Issue 5, pp. 1415 - 1429.e19
autoimmune diseases | hematology | hematopoiesis | genetics | complex disease | Mendelian randomization | cardiovascular diseases | blood | epigenetics | Biochemistry & Molecular Biology | Life Sciences & Biomedicine | Science & Technology | Cell Biology | European Continental Ancestry Group - genetics | Genetic Predisposition to Disease | Genome-Wide Association Study | Immune System Diseases - genetics | Humans | Hematopoietic Stem Cells - pathology | Hematopoietic Stem Cells - metabolism | Genetic Variation | Alleles | Cell Differentiation | Polymorphism, Single Nucleotide | Quantitative Trait Loci | Immune System Diseases - pathology | Index Medicus | Hematology | Hematopoiesis | Epigenetics | Genetics | Complex disease | Autoimmune diseases | Cardiovascular diseases | Blood | Resource
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Next‐generation sequencing for the diagnosis of MYH9‐RD: Predicting pathogenic variants
Human mutation, ISSN 1059-7794, 01/2020, Volume 41, Issue 1, pp. 277 - 290
clinical diagnosis | variant classification | genomics | high throughput sequencing | ACMG guidelines | MYH9‐related disorders | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Thrombocytopenia | Genetic variance | Liver diseases | Next-generation sequencing | Inclusion bodies | Renal failure | Leukocytes | Clinical medicine | Diagnosis | Platelets | Bleeding | Hearing loss | Index Medicus
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Comprehensive Description of Monoallelic GP1BA Variants Associated with Thrombocytopenia
Blood, ISSN 0006-4971, 11/2020, Volume 136, Issue Supplement 1, pp. 34 - 35
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Scientific reports, 08/2019, Volume 9, Issue 1, p. 11406
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Blood, ISSN 0006-4971, 12/2019, Volume 134, Issue 23, pp. 2082 - 2091
BIOBANK | DYSFUNCTION | VARIANTS | GENETIC DIAGNOSIS | INHERITED THROMBOCYTOPENIA | MUTATION | Life Sciences & Biomedicine | Hematology | Science & Technology | Blood Platelet Disorders - genetics | Hemorrhage - genetics | Humans | Female | Hemostasis - genetics | Male | Thrombosis - genetics | Gene Dosage | High-Throughput Nucleotide Sequencing | Blood Platelet Disorders - diagnosis | Hemorrhage - diagnosis | Thrombosis - diagnosis | Index Medicus | Abridged Index Medicus | Thrombosis and Hemostasis | 101
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Neurology, ISSN 0028-3878, 11/2019, Volume 93, Issue 22, pp. e2007 - e2020
Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Cerebral Small Vessel Diseases - genetics | Humans | Middle Aged | Stroke, Lacunar - genetics | Male | CADASIL - genetics | Cerebral Amyloid Angiopathy, Familial - genetics | Age of Onset | Female | Aged | Connective Tissue Diseases - genetics | High-Throughput Nucleotide Sequencing | Migraine with Aura - genetics | Mutation | Index Medicus | Abridged Index Medicus
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Blood, ISSN 0006-4971, 12/2019, Volume 134, Issue 23, pp. 2070 - 2081
Life Sciences & Biomedicine | Hematology | Science & Technology | Chromatin - ultrastructure | Chromatin - metabolism | Humans | Gene Expression Regulation | Genetic Diseases, Inborn - genetics | Male | Genetic Diseases, Inborn - pathology | Mutation, Missense | Thrombocytopenia - pathology | Thrombocytopenia - metabolism | Ikaros Transcription Factor - genetics | Thrombocytopenia - genetics | Thrombopoiesis - genetics | Cytoplasmic Granules - ultrastructure | Blood Platelets - metabolism | Blood Platelets - ultrastructure | Cytoplasmic Granules - metabolism | Cytoplasmic Granules - genetics | HEK293 Cells | Germ-Line Mutation | Female | Genetic Diseases, Inborn - metabolism | Ikaros Transcription Factor - metabolism | Chromatin - genetics | Index Medicus | Abridged Index Medicus
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