Publikace
- Disruption of OVOL2 Distal Regulatory Elements as a Possible Mechanism Implicated in Corneal Endothelial Dystrophy2024 | 1. lékařská fakulta, 2. lékařská fakulta
- A mutation in the SAA1 promoter causes hereditary amyloid A amyloidosis2022 | 1. lékařská fakulta, 3. lékařská fakulta
- Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencing2020 | 1. lékařská fakulta
- An international cohort study of autosomal dominant tubulointerstitial kidney disease due to REN mutations identifies distinct clinical subtypes2020 | 1. lékařská fakulta
- Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia2016 | 1. lékařská fakulta
- A patient showing features of both SBBYSS and GPS supports the concept of a KAT6B-related disease spectrum, with mutations in mid-exon 18 possibly leading to combined phenotypes2015 | 1. lékařská fakulta, 2. lékařská fakulta
- Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness2015 | 1. lékařská fakulta
- Cerebellar dysfunction in a family harboring the PSEN1 mutation co-segregating with a Cathepsin D variant p.A58V2013 | 1. lékařská fakulta
- Complete OATP1B1 and OATP1B3 deficiency causes human Rotor syndrome by interrupting conjugated bilirubin reuptake into the liver2012 | 1. lékařská fakulta, 3. lékařská fakulta
- Trends in SARS-CoV-2 cycle threshold values in the Czech Republic from April 2020 to April 20222023 | 1. lékařská fakulta, Centrum pro přenos poznatků a technologií
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