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Specifika informovaného souhlasu v klinické genetice a genetickém poradenství.
- Published in:
- Journal of Czech Physicians / Časopis Lékařů Českých, 2019, v. 158, n. 1, p. 38
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- Article
MLPA analysis of 32 foetuses with a congenital heart defect and 1 foetus with renal defects -- pilot study. The significant frequency rate of presented pathological CNV.
- Published in:
- Biomedical Papers of the Medical Faculty of Palacky University in Olomouc, 2022, v. 166, n. 2, p. 187, doi. 10.5507/bp.2021.019
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- Article
Characterization of 14 novel deletions underlying Rubinstein-Taybi syndrome: an update of the CREBBP deletion repertoire.
- Published in:
- Human Genetics, 2015, v. 134, n. 6, p. 613, doi. 10.1007/s00439-015-1542-9
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- Article
A comprehensive study evaluating germline FANCG variants in predisposition to breast and ovarian cancer.
- Published in:
- Cancer Medicine, 2024, v. 13, n. 16, p. 1, doi. 10.1002/cam4.70103
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- Article
Differences in the importance of microcephaly, dysmorphism, and epilepsy in the detection of pathogenic CNVs in ID and ASD patients.
- Published in:
- PeerJ, 2019, p. 1, doi. 10.7717/peerj.7979
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- Article
MLPA is a practical and complementary alternative to CMA for diagnostic testing in patients with autism spectrum disorders and identifying new candidate CNVs associated with autism.
- Published in:
- PeerJ, 2019, p. 1, doi. 10.7717/peerj.6183
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- Article