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
- Evaluation of children's services the outpatient Child Obesity Clinic The Motol university hospital, Prague, Czech Republic2017 | Second Faculty of Medicine
- Tuberous Sclerosis Complex in children followed from neonatal period for prenatally diagnosed cardiac rhabdomyoma - two case reports2013 | First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine
- Polycystic kidney and hepatic disease with mental retardation and hand anomalies in three siblings2009 | Second Faculty of Medicine
- Relationship between Genotype and Phenotype in Patients with Microdeletion of Chromosome 22q112001 | First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine
- CNVs in patients with epilepsy - Czech experiencePublication without faculty affiliation
- 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
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