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Journal of human genetics, ISSN 1434-5161, 04/2020, Volume 65, Issue 4, pp. 351 - 353
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Journal of human genetics, ISSN 1434-5161, 03/2020, Volume 65, Issue 3, pp. 207 - 207
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Journal of human genetics, ISSN 1434-5161, 05/2019, Volume 64, Issue 5, pp. 355 - 357
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Journal of human genetics, ISSN 1434-5161, 01/2019, Volume 64, Issue 1, pp. 1 - 1
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Journal of human genetics, ISSN 1434-5161, 04/2018, Volume 63, Issue 4, pp. 393 - 396
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Journal of human genetics, ISSN 1434-5161, 12/2017, Volume 62, Issue 12, pp. 1007 - 1007
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Journal of human genetics, ISSN 1434-5161, 05/2017, Volume 62, Issue 5, pp. 521 - 521
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Journal of human genetics, ISSN 1434-5161, 04/2017, Volume 62, Issue 5, pp. 517 - 519
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Journal of human genetics, ISSN 1434-5161, 04/2018, Volume 63, Issue 4, pp. 393 - 396
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Journal of human genetics, ISSN 1434-5161, 06/2016, Volume 61, Issue 6, pp. 467 - 469
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Journal of human genetics, ISSN 1434-5161, 01/2020, Volume 65, Issue 1, pp. 11 - 19
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Nature communications, ISSN 2041-1723, 02/2017, Volume 8, Issue 1, pp. 14519 - 14519
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Genetic Predisposition to Disease | Genome-Wide Association Study | RNA Splice Sites - genetics | Humans | RNA, Messenger - genetics | RNA, Messenger - metabolism | Regulatory Sequences, Nucleic Acid - genetics | Brain - metabolism | Protein Isoforms - metabolism | Schizophrenia - genetics | RNA Splicing - genetics | Brain - pathology | Polymorphism, Single Nucleotide - genetics | Genome, Human | Protein Isoforms - genetics | Quantitative Trait Loci - genetics | Index Medicus
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Journal of human genetics, ISSN 1434-5161, 03/2015, Volume 60, Issue 3, pp. 109 - 111
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Journal of human genetics, ISSN 1434-5161, 06/2016, Volume 61, Issue 6, pp. 547 - 553
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Genetics, Population | Gene Frequency | Humans | Japan | Selection, Genetic | Databases, Genetic | Genotype | Exome | Genetic Variation | Alleles | High-Throughput Nucleotide Sequencing | Genome, Human | Genomics - methods | Web Browser | Quality Control | Index Medicus | Original
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Journal of human genetics, ISSN 1434-5161, 01/2007, Volume 52, Issue 1, pp. 1 - 12
Human Genetics | Neurosciences | TGFβ signaling | Genetic heterogeneity | Marfan syndrome | TGFBR1 | Cell Biology | TGFBR2 | Loeys–Dietz syndrome | Biomedicine | Immunology | Familial thoracic aortic aneurysms and dissections | Cancer Research | Molecular Medicine | FBN1 | Loeys-Dietz syndrome | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Abnormalities, Multiple - metabolism | Aortic Aneurysm, Thoracic - genetics | Fibrillin-1 | Craniosynostoses - genetics | Humans | Fibrillins | Marfan Syndrome - genetics | Animals | Transforming Growth Factor beta - genetics | Aortic Aneurysm, Thoracic - metabolism | Germ-Line Mutation | Marfan Syndrome - metabolism | Mice | Microfilament Proteins - metabolism | Models, Genetic | Microfilament Proteins - genetics | Transforming Growth Factor beta - metabolism | Abnormalities, Multiple - genetics | Craniosynostoses - metabolism | Genetic aspects | Index Medicus
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Journal of human genetics, ISSN 1434-5161, 01/2014, Volume 59, Issue 1, pp. 1 - 1
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17.
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Reply to “Reduced CYFIP2 Stability by Arg87 Variants Causing Human Neurological Disorders”
Annals of neurology, ISSN 0364-5134, 11/2019, Volume 86, Issue 5, pp. 805 - 806
Journal Article
Journal of human genetics, ISSN 1434-5161, 03/2019, Volume 64, Issue 3, pp. 191 - 197
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Prognosis | Introns | Humans | Repressor Proteins - genetics | Male | Whole Genome Sequencing - methods | Pedigree | Adolescent | Female | Mutagenesis, Insertional | Genome, Human | Sequence Analysis, DNA - methods | Epilepsies, Myoclonic - genetics | Disease | Nucleotide sequence | Myoclonus | Epilepsy | Insertion | Genomes | Algorithms | New combinations | DNA repeat expansion | Genetics | Genetic testing | Bioinformatics | Deoxyribonucleic acid--DNA | DNA sequencing | Index Medicus
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Nature reviews. Neurology, ISSN 1759-4758, 12/2014, Volume 10, Issue 12, pp. 676 - 678
Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Molecular Diagnostic Techniques - ethics | Molecular Diagnostic Techniques - methods | Neurology - ethics | Sequence Analysis - methods | Humans | Genetic Testing - ethics | Molecular Diagnostic Techniques - economics | Nervous System Diseases - genetics | Genetic Testing - methods | Nervous System Diseases - diagnosis | Exome | Neurology - economics | Genetic Testing - economics | Neurology - methods | Sequence Analysis - economics | Sequence Analysis - ethics | Index Medicus
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Journal of human genetics, ISSN 1434-5161, 12/2014, Volume 59, Issue 12, pp. 691 - 693
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Sturge-Weber Syndrome - physiopathology | Humans | Child, Preschool | GTP-Binding Protein alpha Subunits - genetics | Male | Sturge-Weber Syndrome - genetics | GTP-Binding Protein alpha Subunits, Gq-G11 | Age of Onset | Port-Wine Stain - physiopathology | Female | High-Throughput Nucleotide Sequencing | Mutation | Genome, Human | Child | Port-Wine Stain - genetics | Wine | Meninges | Genomes | Next-generation sequencing | Exons | Index Medicus
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