- Association of Germline CHEK2 Gene Variants with Risk and Prognosis of Non-Hodgkin Lymphoma2015 | 1. lékařská fakulta
- Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia2021 | 2. lékařská fakulta
- A rare CACNA1H variant associated with amyotrophic lateral sclerosis causes complete loss of Ca(v)3.2 T-type channel activity2020 | Ústřední knihovna
- Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia2022 | 1. lékařská fakulta
- Mutation analysis of TRPS1 gene including core promoter, 5 ' UTR, and 3 ' UTR regulatory sequences with insight into their organization2017 | 1. lékařská fakulta, Přírodovědecká fakulta, Matematicko-fyzikální fakulta
- Genotype-phenotype associations in WT1 glomerulopathy2014 | 2. lékařská fakulta
- ATP2B2 de novo variants as a cause of variable neurodevelopmental disorders that feature dystonia, ataxia, intellectual disability, behavioral symptoms, and seizures2023 | 1. lékařská fakulta