Publications
- Noninvasive Immunohistochemical Diagnosis and Novel MUC1 Mutations Causing Autosomal Dominant Tubulointerstitial Kidney Disease2018 | First Faculty of Medicine, Second Faculty of Medicine
- Clinical manifestations and molecular aspects of phosphoribosylpyrophosphate synthetase superactivity in females2018 | First Faculty of Medicine
- Early isolated V-lesion may not truly represent rejection of the kidney allograft2018 | First Faculty of Medicine
- Thymidine kinase 2 and alanyl-tRNA synthetase 2 deficiencies cause lethal mitochondrial cardiomyopathy: case reports and review of the literature2017 | First Faculty of Medicine, Second Faculty of Medicine
- 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 | First Faculty of Medicine, Second Faculty of Medicine
- Multiplex PCR and NGS-based identification of mRNA splicing variants: Analysis of BRCA1 splicing pattern as a model2017 | First Faculty of Medicine
- Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia2016 | First Faculty of Medicine
- Hereditary truncating mutations of DNA repair and other genes in BRCA1/BRCA2/PALB2-negatively tested breast cancer patients2016 | First Faculty of Medicine
- Molecular patterns of diffuse and nodular parathyroid hyperplasia in long-term hemodialysis2016 | First Faculty of Medicine
- Lipoprotein Lipase Deficiency: Clinical, Biochemical and Molecular Characteristics in Three Patients with Novel Mutations in the LPL Gene2014 | First Faculty of Medicine
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