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Cardiomyopathies in 100,000 genomes project: interval evaluation improves diagnostic yield and informs strategies for ongoing gene discovery.
- Published in:
- Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01390-9
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- Article
Polycystic ovary syndrome: insight into pathogenesis and a common association with insulin resistance.
- Published in:
- Clinical Medicine, 2016, v. 16, n. 3, p. 262, doi. 10.7861/clinmedicine.16-3-262
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- Publication type:
- Article
Polycystic ovary syndrome: insight into pathogenesis and a common association with insulin resistance.
- Published in:
- Clinical Medicine, 2015, v. 15, p. s72, doi. 10.7861/clinmedicine.15-6-s72
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- Publication type:
- Article
Frequency of pathogenic germline variants in cancer susceptibility genes in 1336 renal cell carcinoma cases.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 17, p. 3001, doi. 10.1093/hmg/ddac089
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- Article
Elongin C (ELOC/TCEB1)-associated von Hippel–Lindau disease.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 16, p. 2728, doi. 10.1093/hmg/ddac066
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- Publication type:
- Article
Joint ABS-UKCGG-CanGene-CanVar consensus regarding the use of CanRisk in clinical practice.
- Published in:
- British Journal of Cancer, 2024, v. 130, n. 12, p. 2027, doi. 10.1038/s41416-024-02733-4
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- Article