Publications
- A founder COL4A4 pathogenic variant resulting in autosomal recessive Alport syndrome accounts for most genetic kidney failure in Romani people2023 | Faculty of Medicine in Pilsen, Second Faculty of Medicine, Central Library of Charles University, Third Faculty of Medicine
- Hereditary renal cell carcinoma syndromes2020 | Faculty of Medicine in Pilsen
- Late diagnosis of complete androgen insensitivity syndrome and transmission/carriers of the condition in a family with mutation c.2495G. T p.(Arg832Leu) in exon 7 of the androgen receptor gene: genetic, clinical and ethical aspects2019 | Faculty of Medicine in Pilsen, Second Faculty of Medicine
- Growth disorders due to rearrangement of SHOX gene locus2019 | Faculty of Medicine in Pilsen
- Molecular Genetic Testing of Diabetes Insipidus Renalis2019 | Faculty of Medicine in Pilsen
- Léri-Weill Syndrome on the Principle of Structural Aberration of Chromosome Y (Case Report)2018 | Faculty of Medicine in Pilsen
- Pes Cavus2015 | Faculty of Medicine in Pilsen
- Growth disorder in a Vietnamese girl with Turner syndrome and with an uncommon cytogenetic finding2014 | First Faculty of Medicine, Faculty of Medicine in Pilsen
- Surprising diagnosis of a rare endocrine disease when examining a child for short stature2014 | Faculty of Medicine in Pilsen
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