Publikace
- Rare copy number variation in extremely impulsively violent males2019 | 1. lékařská fakulta, Ústřední knihovna, Lékařská fakulta v Plzni
- Ectopic GRHL2 Expression Due to Non-coding Mutations Promotes Cell State Transition and Causes Posterior Polymorphous Corneal Dystrophy 42018 | 1. lékařská fakulta, 3. lékařská fakulta
- Noninvasive Immunohistochemical Diagnosis and Novel MUC1 Mutations Causing Autosomal Dominant Tubulointerstitial Kidney Disease2018 | 1. lékařská fakulta, 2. lékařská fakulta
- Validation of CZECANCA (CZEch CAncer paNel for Clinical Application) for targeted NGS-based analysis of hereditary cancer syndromes2018 | 1. lékařská fakulta
- Early isolated V-lesion may not truly represent rejection of the kidney allograft2018 | 1. lékařská fakulta
- Thymidine kinase 2 and alanyl-tRNA synthetase 2 deficiencies cause lethal mitochondrial cardiomyopathy: case reports and review of the literature2017 | 1. lékařská fakulta, 2. lékařská fakulta
- Analysis of 31-year-old patient with SYNGAP1 gene defect points to importance of variants in broader splice regions and reveals developmental trajectory of SYNGAP1-associated phenotype: case report2017 | 1. lékařská fakulta, 2. lékařská fakulta
- Hereditary truncating mutations of DNA repair and other genes in BRCA1/BRCA2/PALB2-negatively tested breast cancer patients2016 | 1. lékařská fakulta
- Molecular patterns of diffuse and nodular parathyroid hyperplasia in long-term hemodialysis2016 | 1. lékařská fakulta
- Validation of rs2956540:G > C and rs3735520:G > A association with keratoconus in a population of European descent2015 | 1. lékařská fakulta, 2. lékařská fakulta
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