Publikace
- Plasma Mucin-1 (CA15-3) Levels in Autosomal Dominant Tubulointerstitial Kidney Disease due to MUC1 Mutations2021 | 1. lékařská fakulta, Lékařská fakulta v Plzni
- Outcomes of patient self-referral for the diagnosis of several rare inherited kidney diseases2020 | 1. lékařská fakulta
- Spinal muscular atrophy caused by a novel Alu-mediated deletion of exons 2a-5 in SMN1 undetectable with routine genetic testing2020 | 1. lékařská fakulta
- Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease due to mutations in UMOD and MUC12020 | 1. lékařská fakulta
- Quality of life in patients with autosomal dominant tubulointerstitial kidney disease2019 | 1. 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
- Autosomal dominant tubulointerstitial kidney disease-UMOD is the most frequent non polycystic genetic kidney disease2018 | 1. lékařská fakulta
- Multiplex PCR and NGS-based identification of mRNA splicing variants: Analysis of BRCA1 splicing pattern as a model2017 | 1. lékařská fakulta
- Hereditary truncating mutations of DNA repair and other genes in BRCA1/BRCA2/PALB2-negatively tested breast cancer patients2016 | 1. lékařská fakulta
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