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ClinVar database
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Response to Letter to the Editor from Youn Hee Jee: Familial Short Stature - A New Phenotype of Growth Plate Collagenopathies
2022 |
Second Faculty of Medicine
publication
Impact of GLA Variant Classification on the Estimated Prevalence of Fabry Disease: A Systematic Review and Meta-Analysis of Screening Studies
2023 |
First Faculty of Medicine
publication
Functional characterization of CHEK2 variants in a Saccharomyces cerevisiae system
2019 |
First Faculty of Medicine
publication
A rare large duplication of MLH1 identified in Lynch syndrome
2021 |
Faculty of Medicine in Pilsen