- Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy2002 | 2. lékařská fakulta
- Hyperphenylalaninemia in the Czech Republic: Genotype-phenotype correlations and in silico analysis of novel missense mutations2013 | 3. lékařská fakulta
- Systematic Approach Revealed SERPING1 Splicing-Affecting Variants to be Highly Represented in the Czech National HAE Cohort2023 | 2. lékařská fakulta, 1. lékařská fakulta, Lékařská fakulta v Plzni, Lékařská fakulta v Hradci Králové
- Genetic and geographic influence on phenotypic variation in European sarcoidosis patients2023 | 1. lékařská fakulta
- Hypertrophic cardiomypathy - what is new?2012 | 3. lékařská fakulta
- The genomic and phenotypic diversity of Schizosaccharomyces pombe2015 | Přírodovědecká fakulta
- Phenotypes of organ involvement in sarcoidosis2018 | 1. lékařská fakulta
- Genetics, diagnosis, management and future directions of research of phaeochromocytoma and paraganglioma: a position statement and consensus of the Working Group on Endocrine Hypertension of the European Society of Hypertension2020 | 1. lékařská fakulta
- Polymorphisms at PRSS1-PRSS2 and CLDN2-MORC4 loci associate with alcoholic and non-alcoholic chronic pancreatitis in a European replication study2015 | 2. lékařská fakulta
- De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay2018 | 2. lékařská fakulta, 1. lékařská fakulta