- Hearing Function in Heterozygous Carriers of a Pathogenic GJB2 Gene Mutation2013 | Second Faculty of Medicine
- Heterozygous carriers of Slavic mutation 657del5 of NBN gene in patients with colorectal cancer2011 | Second Faculty of Medicine
- Cluster of patients with Familial Mediterranean fever and heterozygous carriers of mutations in MEFV gene in the Czech Republic2014 | First Faculty of Medicine, Second Faculty of Medicine
- Novel disease-causing variants and phenotypic features of X-linked megalocornea2022 | First Faculty of Medicine, Second Faculty of Medicine
- C3 glomerulopathy - a new clinical entity2018 | Faculty of Medicine in Pilsen
- Two novel pathogenic variants in KIAA1109 causing Alkuraya-Kučinskas syndrome in two Czech Roma brothers2020 | Second Faculty of Medicine
- X-linked Myotubular Myopathy: a Novel Mutation in the MTM-1 Gene - Case Reports2013 | First Faculty of Medicine, Second Faculty of Medicine
- No evidence for segregation distortion of cystic fibrosis alleles among sibs of cystic fibrosis patients1995 | Second Faculty of Medicine
- MIR204 n.37C>T variant as a cause of chorioretinal dystrophy variably associated with iris coloboma, early-onset cataracts and congenital glaucoma2023 | First Faculty of Medicine, Second Faculty of Medicine
- A case of digenic maturity onset diabetes of the young with heterozygous variants in both HNF1Α and HNF1Β genes2021 | Second Faculty of Medicine
- NBN 657del5 heterozygous mutations and colorectal cancer risk in the Czech Republic2009 | First Faculty of Medicine, Second Faculty of Medicine, Third Faculty of Medicine
- Comprehensive Analysis of Familial Parkinsonism Genes in Rapid-Eye-Movement Sleep Behavior Disorder2021 | First Faculty of Medicine
- Lack of association of CD44-rs353630 and CHI3L2-rs684559 with pancreatic ductal adenocarcinoma survival2021 | Faculty of Medicine in Pilsen
- ADAM22 ethnic-specific variant reducing binding of membrane-associated guanylate kinases causes focal epilepsy and behavioural disorder2023 | First Faculty of Medicine
- The NBN founder mutation-Evidence for a country specific difference in age at cancer manifestation2023 | Second Faculty of Medicine
- PAICS deficiency, a new defect of de novo purine synthesis resulting in multiple congenital anomalies and fatal outcome2019 | First Faculty of Medicine
- The Slavic NBN Founder Mutation: A Role for Reproductive Fitness?2016 | First Faculty of Medicine, Second Faculty of Medicine, Faculty of Physical Education and Sport
- Whole Blood Samples for Faster Real-Time PCR Analysis of Thrombophilic Mutations in SARS-CoV-2 Virus Positive Patients2022 | Faculty of Medicine in Hradec Králové, Faculty of Pharmacy in Hradec Králové
- The APCR ratio is differently influenced by warfarin therapy when different assays are usedPublication without faculty affiliation
- Genetic analysis of the CYP21A2 gene in neonatal dried blood spots from children with transiently elevated 17-hydroxyprogesterone2012 | Second Faculty of Medicine, Third Faculty of Medicine
- Examination ofthe Gene for Connexin 26 in Czech Patients with Congenital Autosomal Recessive Non-SyndromicHearing Loss2002 | Second Faculty of Medicine
- Familial hematuria: A review2017 | Second Faculty of Medicine
- Pseudodominant Nanophthalmos in a Roma Family Caused by a Novel PRSS56 Variant2020 | First Faculty of Medicine, Second Faculty of Medicine
- Brain iron and metabolic abnormalities in C19orf12 mutation carriers: A 7.0 tesla MRI study in mitochondrial membrane protein-associated neurodegeneration2020 | First Faculty of Medicine
- The rs10830963 Polymorphism of the MTNR1B Gene: Association With Abnormal Glucose, Insulin and C-peptide Kinetics2022 | Publication without faculty affiliation
- ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk2023 | First Faculty of Medicine, Central Library of Charles University
- CHEK2p.I157T Mutation Is Associated with Increased Risk of Adult-Type Ovarian Granulosa Cell Tumors2022 | Faculty of Medicine in Pilsen