- In silico analysis of proteasome subunit transcription factors2013 | Přírodovědecká fakulta
- Hyperphenylalaninemia in the Czech Republic: Genotype-phenotype correlations and in silico analysis of novel missense mutations2013 | 3. lékařská fakulta
- The key role of purine metabolism in the folate-dependent phenotype of autism spectrum disorders: An in silico analysis2020 | 2. lékařská fakulta
- CLCN1 Mutations in Czech Patients with Myotonia Congenita, In Silico Analysis of Novel and Known Mutations in the Human Dimeric Skeletal Muscle Chloride Channel2013 | 2. lékařská fakulta
- Inherited ichthyoses: molecular causes of the disease in Czech patients2019 | Publikace bez příslušnosti k fakultě
- Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia2022 | 1. lékařská fakulta
- Mutation analysis of TRPS1 gene including core promoter, 5 ' UTR, and 3 ' UTR regulatory sequences with insight into their organization2017 | Přírodovědecká fakulta, 1. lékařská fakulta, Matematicko-fyzikální fakulta
- Functional analysis of germline ETV6 W380R mutation causing inherited thrombocytopenia and secondary acute lymphoblastic leukemia or essential thrombocythemia2021 | 2. lékařská fakulta
- MIR204 n.37C>T variant as a cause of chorioretinal dystrophy variably associated with iris coloboma, early-onset cataracts and congenital glaucoma2023 | 1. lékařská fakulta, 2. lékařská fakulta
- Role transponáz tyrosinového typu v evoluci bakteriálních palindromatických repetic v genomu.Publikace bez příslušnosti k fakultě
- Six New Gap Junction Beta 1 Gene Mutations and Their Phenotypic Expression in Czech Patients with Charcot-Marie-Tooth Disease2010 | 2. lékařská fakulta
- The role of prolines and glycine in the transmembrane domain of LAT +12021 | Přírodovědecká fakulta, Ústřední knihovna
- Antinociceptive Activity of Chemical Components of Essential Oils That Involves Docking Studies: A Review2020 | Fakulta tělesné výchovy a sportu
- OPA1 analysis in an international series of probands with bilateral optic atrophy2017 | 1. lékařská fakulta
- First Macedonian child with tyrosinemia type 1 successfully treated with nitisinone and report of a novel mutation in the FAH gene2017 | 1. lékařská fakulta
- Identification and partial characterization of a novel serpin from Eudiplozoon nipponicum (Monogenea, Polyopisthocotylea)2018 | Přírodovědecká fakulta
- A new patient with congenital myasthenic syndrome type 20 due to compound heterozygous missense SLC5A7 variants suggests trends in genotype-phenotype correlation2023 | 1. lékařská fakulta, 2. lékařská fakulta
- In-silico driven engineering of enantioselectivity of a penicillin G acylase towards active pharmaceutical ingredients2016 | Přírodovědecká fakulta
- In Silico Identification and Validation of Organic Triazole Based Ligands as Potential Inhibitory Drug Compounds of SARS-CoV-2 Main Protease +12021 | Přírodovědecká fakulta
- Analysis of KERA in four families with cornea plana identifies two novel mutations2018 | 1. lékařská fakulta
- A Novel Low-Risk Germline Variant in the SH2 Domain of the SRC Gene Affects Multiple Pathways in Familial Colorectal Cancer2021 | Lékařská fakulta v Plzni
- Novel OPA1 missense mutation in a family with optic atrophy and severe widespread neurological disorder2013 | 1. lékařská fakulta
- PARTICLE triplexes cluster in the tumor suppressor WWOX and may extend throughout the human genome2017 | Ústřední knihovna
- Glycogen storage disease-like phenotype with central nervous system involvement in a PGM1-CDG patient2014 | 1. lékařská fakulta
- Calreticulin exposure correlates with robust adaptive antitumor immunity and favorable prognosis in ovarian carcinoma patients2019 | 2. lékařská fakulta, 3. lékařská fakulta, Lékařská fakulta v Plzni, Lékařská fakulta v Hradci Králové
- Rare PSAP Variants and Possible Interaction with GBA in REM Sleep Behavior Disorder2022 | 1. lékařská fakulta
- Association of genetic polymorphisms with survival of pancreatic ductal adenocarcinoma patients2016 | Ústřední knihovna
- Evolutionary loss of peroxisomes - not limited to parasites2015 | Přírodovědecká fakulta