Publications
- Unusually severe phenotype of neonatal primary hyperparathyroidism due to a heterozygous inactivating mutation in the CASR gene2009 | First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine
- Xp21 microdeletion syndrome: Severe cause of adrenal insufficiency, muscular dystrophy, plasma lipid disorder and developmental delay in a two-month-old child with failure to thrive2012 | Second Faculty of Medicine
- Pendred syndrome in patients with hypothyroidism: genetic diagnosis, phenotypic variability and occurence of phenocopies2008 | Second Faculty of Medicine, Third Faculty of Medicine, Faculty of Medicine in Hradec Králové
- Pendred syndrome among patients with congenital hypothyroidism detected by neonatal screening: identification of two novel PDS/SLC26A4 mutations2008 | Second Faculty of Medicine, Third Faculty of Medicine
- Thyroidectomy in a Patient with Multinodular Dyshormonogenetic Goitre - A Case of Pendred Syndrome Confirmed by Mutations in the PDS/SLC26A4 Gene2008 | Second Faculty of Medicine, Third Faculty of Medicine
- Pendrin and its role in the pathogenesis of congenital hypothyroidism and other diseases2006 | Second Faculty of Medicine, Third Faculty of Medicine
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