Publications
- 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
- 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
- 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
- Molecular genetic analysis in 14 Czech Kabuki syndrome patients is confirming the utility of phenotypic scoring2016 | First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine, Faculty of Medicine in Hradec Králové
- Delece 18p v mozaice u pacienta s fenotypem připomínajícím syndrom Noonanové2016 | First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine, Faculty of Mathematics and Physics
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