ℹ️
🇬🇧
Search
Search for people relevant for "Variants"
Variants
Person
Class
Person
Publication
Programmes
Export current view
Mgr. Martin Bezdíčka Ph.D.
External academic staff at Second Faculty of Medicine
15 publications
Publications
publication
Genetic nephrotic syndrome associated with disturbed function of glomerular slit membrane and podocyte cytoskeleton in children
2023 |
Second Faculty of Medicine
publication
Alteration in DNA-binding affinity of Wilms tumor 1 protein due to WT1 genetic variants associated with steroid - resistant nephrotic syndrome in children
2022 |
Second Faculty of Medicine
publication
Novel presentation of the c.1856A > G (p.Asp619Gly) TSHR gene-activating variant: relapsing hyperthyroidism in three subsequent generations manifesting in early childhood and an in vitro functional study
2021 |
Second Faculty of Medicine, First Faculty of Medicine, Third Faculty of Medicine
publication
Tubuloglomerular Disease With Cone-Shaped Epiphyses Associated With Hypomorphic Variant and a Novel p.Cys14Arg in the TTC21B Gene: A Case Report
2021 |
Second Faculty of Medicine, Faculty of Medicine in Hradec Králové
publication
Dent Disease Type 2 as a Cause of Focal Segmental Glomerulosclerosis in a 6-Year-Old Boy: A Case Report
2020 |
Second Faculty of Medicine, First Faculty of Medicine
publication
Successful maintenance of partial remission in a child with COQ2 nephropathy by coenzyme Q10 treatment
2020 |
Second Faculty of Medicine
publication
Various phenotypes of disease associated with mutated DGKE gene
2020 |
Second Faculty of Medicine
publication
Molecular basis and outcomes of atypical haemolytic uraemic syndrome in Czech children
2020 |
Second Faculty of Medicine
publication
Genetic diagnosis of steroid-resistant nephrotic syndrome in a longitudinal collection of Czech and Slovak patients: a high proportion of causative variants in NUP93
2018 |
Second Faculty of Medicine
publication
Nephrotic syndrome sera induce different transcriptomes in podocytes based on the steroid response
2024 |
Second Faculty of Medicine, Faculty of Medicine in Pilsen, Central Library of Charles University
Load more publications (5)
Loading network view...