Publikace
- Sideroblastic anemia associated with multisystem mitochondrial disorders2019 | 1. lékařská fakulta, 2. lékařská fakulta
- Ectopic GRHL2 Expression Due to Non-coding Mutations Promotes Cell State Transition and Causes Posterior Polymorphous Corneal Dystrophy 42018 | 1. lékařská fakulta, 3. lékařská fakulta
- Early isolated V-lesion may not truly represent rejection of the kidney allograft2018 | 1. lékařská fakulta
- Autosomal-Dominant Corneal Endothelial Dystrophies CHED1 and PPCD1 Are Allelic Disorders Caused by Non-coding Mutations in the Promoter of OVOL22016 | 1. lékařská fakulta
- Molecular patterns of diffuse and nodular parathyroid hyperplasia in long-term hemodialysis2016 | 1. lékařská fakulta
- Acadian variant of Fanconi syndrome is caused by mitochondrial respiratory chain complex I deficiency due to a non-coding mutation in complex I assembly factor NDUFAF62016 | 1. lékařská fakulta
- Molecular diagnostics identifies risks for graft dysfunction despite borderline histologic changes2015 | 1. lékařská fakulta, Lékařská fakulta v Plzni
- Validation of rs2956540:G > C and rs3735520:G > A association with keratoconus in a population of European descent2015 | 1. lékařská fakulta, 2. lékařská fakulta
- Cerebellar dysfunction in a family harboring the PSEN1 mutation co-segregating with a Cathepsin D variant p.A58V2013 | 1. lékařská fakulta
- Mutace v TMEM70 způsobuje izolovaný deficit ATP syntasy a neonatální mitochondriální encefalo-kardiomyopatii2008 | 1. lékařská fakulta
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