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Mgr. Martin Bezdíčka Ph.D.
Externí akademický pracovník na 2. lékařská fakulta
15 publikací
Publikace
publication
Genetic nephrotic syndrome associated with disturbed function of glomerular slit membrane and podocyte cytoskeleton in children
2023 |
2. lékařská fakulta
publication
Schimke immunoosseous dysplasia: an ultra-rare disease. a 20-year case series from the tertiary hospital in the Czech Republic
2023 |
2. lékařská fakulta
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 |
2. lékařská fakulta
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 |
2. lékařská fakulta, 1. lékařská fakulta, 3. lékařská fakulta
publication
Dent Disease Type 2 as a Cause of Focal Segmental Glomerulosclerosis in a 6-Year-Old Boy: A Case Report
2020 |
2. lékařská fakulta, 1. lékařská fakulta
publication
Successful maintenance of partial remission in a child with COQ2 nephropathy by coenzyme Q10 treatment
2020 |
2. lékařská fakulta
publication
Various phenotypes of disease associated with mutated DGKE gene
2020 |
2. lékařská fakulta
publication
Molecular basis and outcomes of atypical haemolytic uraemic syndrome in Czech children
2020 |
2. lékařská fakulta
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 |
2. lékařská fakulta
publication
Nephrotic syndrome sera induce different transcriptomes in podocytes based on the steroid response
2024 |
2. lékařská fakulta, Lékařská fakulta v Plzni, Ústřední knihovna
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