Publications
- A Novel Frameshift Mutation in the AFG3L2 Gene in a Patient with Spinocerebellar Ataxia2014 | Second Faculty of Medicine
- Molecular Cytogenetic Characterization in Four Pediatric Pheochromocytomas and Paragangliomas2011 | Faculty of Science, First Faculty of Medicine, Second Faculty of Medicine, Faculty of Physical Education and Sport
- Vitamin D receptor gene polymorphisms, bone mineral density and bone turnover: folk genotype is related to postmenopausal bone mass2002 | First Faculty of Medicine, Faculty of Physical Education and Sport, Faculty of Arts
- Two novel variants of the MBTPS1 gene in Czech family with Kondo-Fu type spondyloepiphyseal dysplasia and cataract2023 | First Faculty of Medicine, Second Faculty of Medicine
- Schimke immunoosseous dysplasia: an ultra-rare disease. a 20-year case series from the tertiary hospital in the Czech Republic2023 | Second Faculty of Medicine
- Father and son with a pathogenic variant c.614dup p.(Gln206Thrfs*20) in the NR5A1 gene2023 | Second Faculty of Medicine
- Ověření nálezu změn metylace z analýzy MS-MLPA metodou přímé Sangerovy sekvenace po bisulfitové konverzi – optimalizace pro diagnostiku2023 | Second Faculty of Medicine
- Objasnenie príčiny dysplázie genitálu u syna a jeho otca2023 | Second Faculty of Medicine
- Zimmermann-Laband syndrome in monozygotic twins with a mild neurobehavioral phenotype lacking gingival overgrowth-A case report of a novel KCNN3 gene variant2022 | Second Faculty of Medicine
- Ověření nálezu změn metylace z analýzy MS-MLPA metodou přímé Sangerovy sekvenace po bisulfitové konverzi - využití v klinické laboratoři, výhody a limitace metody2022 | Second Faculty of Medicine
Loading network view...