Publications
- Novel allelic variants and evidence for a prevalent mutation in URAT1 causing renal hypouricemia: biochemical, genetics and functional analysis2013 | First Faculty of Medicine, Third Faculty of Medicine, Faculty of Science
- Dubin-Johnson syndrome coinciding with colon cancer and atherosclerosis2013 | First Faculty of Medicine, Third Faculty of Medicine
- Isolated X-Linked Hypertrophic Cardiomyopathy Caused by a Novel Mutation of the Four-and-a-Half LIM Domain 1 Gene2013 | First Faculty of Medicine
- Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing2013 | First Faculty of Medicine
- Cholesteryl ester storage disease: Review of the findings in 135 reported patients with an underdiagnosed disease2013 | First Faculty of Medicine
- Mutations in DNAJC5, Encoding Cysteine-String Protein Alpha, Cause Autosomal-Dominant Adult-Onset Neuronal Ceroid Lipofuscinosis2011 | First Faculty of Medicine
- Adenotonsillar pathology in mucopolysaccharidoses - lysosomal storage predominates in paracortical CD63+ cells2024 | First Faculty of Medicine, Second Faculty of Medicine
- Hepatology2022 | First Faculty of Medicine, Third Faculty of Medicine, Second Faculty of Medicine, Faculty of Medicine in Pilsen, Faculty of Medicine in Hradec Králové
- AGAL misprocessing-induced ER stress and the unfolded protein response: lysosomal storage-independent mechanism of Fabry disease pathogenesis?2022 | First Faculty of Medicine, Third Faculty of Medicine
- Autosomal dominant tubulointerstitial kidney disease: A review2022 | First Faculty of Medicine
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