Publications
- Inherited ichthyoses: molecular causes of the disease in Czech patients2019 | Publication without faculty affiliation
- Cutis laxa and excessive bone growth due to de novo mutations in PTDSS12018 | Second Faculty of Medicine
- Double Heterozygosity with Mutations Involving both the GJB2 and GJB6 Genes is a Possible, but very Rare, Cause of Congenital Deafness in the Czech Population2005 | First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine
- A novel Czech kindred with familial medullary thyroid carcinoma and Hirschsprung's disease2005 | Second Faculty of Medicine
- 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
- Ectodermal dysplasia: important role of complex dental care in its interdisciplinary management2022 | Second Faculty of Medicine
- Fanconi anemia in the Czech Republic: Role of HSCT and long-term follow-up2020 | Second Faculty of Medicine
- Association of 17q24.2-q24.3 deletions with recognizable phenotype and short telomeres2018 | Second Faculty of Medicine
- Genome-wide uniparental diploidy of all paternal chromosomes in an 11-year-old girl with deafness and without malignancy2018 | Second Faculty of Medicine
- Evaluation of children's services the outpatient Child Obesity Clinic The Motol university hospital, Prague, Czech Republic2017 | Second Faculty of Medicine
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