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- Prosaposin deficiency due to 1BP deletion in SAP B domain: the evidence for functional SAP A deficiency due to nonsense-mediated mRNA decayPublikace bez příslušnosti k fakultě
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- Point mutations in Czech DMD/BMD patients and their phenotypic outcome2009 | 2. lékařská fakulta
- Mutations in ANTXR1 Cause GAPO Syndrome2013 | 1. lékařská fakulta
- Analysis of histopathologic and molecular pathologic findings in Czech LGMD2A patients2006 | 2. lékařská fakulta
- Deleterious ABCA7 mutations and transcript rescue mechanisms in early onset Alzheimer's disease2017 | 1. lékařská fakulta, 3. lékařská fakulta