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Bi-allelic MCM10 variants associated with immune dysfunction and cardiomyopathy cause telomere shortening.
- Published in:
- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-21878-x
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- Article
Genome Wide Identification of Recessive Cancer Genes by Combinatorial Mutation Analysis.
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- PLoS ONE, 2008, v. 3, n. 10, p. 1, doi. 10.1371/journal.pone.0003380
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- Article
Pre-symptomatic genetic testing for inherited cardiac conditions: a qualitative exploration of psychosocial and ethical implications.
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- European Journal of Human Genetics, 2014, v. 22, n. 1, p. 88, doi. 10.1038/ejhg.2013.81
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- Article
Attitudes to reproductive genetic testing in women who had a positive BRCA test before having children: a qualitative analysis.
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- European Journal of Human Genetics, 2012, v. 20, n. 1, p. 4, doi. 10.1038/ejhg.2011.146
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- Article
Direct‐to‐consumer genetic tests providing health risk information: A systematic review of consequences for consumers and health services.
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- Clinical Genetics, 2023, v. 104, n. 1, p. 3, doi. 10.1111/cge.14332
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- Article
Exploring the potential duty of care in clinical genomics under UK law.
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- Medical Law International, 2017, v. 17, n. 3, p. 158, doi. 10.1177/0968533217721966
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- Article
Genomic sequencing in oncology: Considerations for integration in routine cancer care.
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- European Journal of Cancer Care, 2022, v. 31, n. 3, p. 1, doi. 10.1111/ecc.13584
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- Article
Distinct ECG Phenotypes Identified in Hypertrophic Cardiomyopathy Using Machine Learning Associate With Arrhythmic Risk Markers.
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- Frontiers in Physiology, 2018, p. 1, doi. 10.3389/fphys.2018.00213
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- Article
Implementation of a genomic medicine multi-disciplinary team approach for rare disease in the clinical setting: a prospective exome sequencing case series.
- Published in:
- Genome Medicine, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13073-019-0651-9
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- Article