Publikace
- 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
- Mutations in Vps15 perturb neuronal migration in mice and are associated with neurodevelopmental disease in humans2018 | 1. lékařská fakulta
- Rare variants in known and novel candidate genes predisposing to statin-associated myopathy2016 | 1. lékařská fakulta, Ústřední knihovna
- Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia2016 | 1. lékařská fakulta
- Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness2015 | 1. lékařská fakulta
- DNA Damage Response and Inflammatory Signaling Limit the MLL-ENL-Induced Leukemogenesis In Vivo2012 | 1. lékařská fakulta
- Spontaneous nonsense mutation in the tuftelin 1 gene is associated with abnormal hair appearance and amelioration of glucose and lipid metabolism in the rat2024 | 1. lékařská fakulta, 3. lékařská fakulta, Ústřední knihovna
- Disruption of OVOL2 Distal Regulatory Elements as a Possible Mechanism Implicated in Corneal Endothelial Dystrophy2024 | 1. lékařská fakulta, 2. lékařská fakulta
- Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver disease2023 | 1. lékařská fakulta, 3. lékařská fakulta, Ústřední knihovna, 2. lékařská fakulta
- Low Frequency of Cancer-Predisposition Gene Mutations in Liver Transplant Candidates with Hepatocellular Carcinoma2023 | 1. lékařská fakulta, Ústřední knihovna, Přírodovědecká fakulta
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