Found: 7
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A heterozygous germline CD100 mutation in a family with primary sclerosing cholangitis.
- Published in:
- Science Translational Medicine, 2021, v. 13, n. 582, p. 1, doi. 10.1126/scitranslmed.abb0036
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- Article
Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases.
- Published in:
- Genome Medicine, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13073-021-00965-0
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- Publication type:
- Article
Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases.
- Published in:
- Genome Medicine, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13073-021-00965-0
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- Article
Exome sequencing in 38 patients with intracranial aneurysms and subarachnoid hemorrhage.
- Published in:
- Journal of Neurology, 2020, v. 267, n. 9, p. 2533, doi. 10.1007/s00415-020-09865-6
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- Article
Genetic Variation in ABCC4 and CFTR and Acute Pancreatitis during Treatment of Pediatric Acute Lymphoblastic Leukemia.
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- Journal of Clinical Medicine, 2021, v. 10, n. 21, p. 4815, doi. 10.3390/jcm10214815
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- Article
Genome interpretation in a federated learning context allows the multi-center exome-based risk prediction of Crohn's disease patients.
- Published in:
- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-46887-2
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- Article
Current Developments of Clinical Sequencing and the Clinical Utility of Polygenic Risk Scores in Inflammatory Diseases.
- Published in:
- Frontiers in Immunology, 2021, v. 11, p. N.PAG, doi. 10.3389/fimmu.2020.577677
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- Article