- Identification of a dysfunctional exon-skipping splice variant in GLUT9/SLC2A9 causal for renal hypouricemia type 22023 | 1. lékařská fakulta
- A novel insertion of a rearranged L1 element in exon 44 of the dystrophin gene: Further evidence for possible bias in retroposon integration2006 | 2. lékařská fakulta
- Aberrant splicing of the COL4A5 gene in patients with Alport syndrome1994 | Ústřední knihovna
- Human beta-mannosidase cDNA characterization and first identification of a mutation associated with human beta-mannosidosis1998 | 2. lékařská fakulta
- Novel mutations of the APC gene and genetic consequences of splicing mutations in the Czech FAP families2013 | 1. lékařská fakulta
- Phenotype Variability in Czech Patients Carrying PAX6 Disease-Causing Variants2020 | 1. lékařská fakulta
