- NAD(P)H:quinone oxidoreductase 1 Pro187Ser polymorphism and expression do not cosegregate with clinico-pathological characteristcs of human mammary tumors2009 | First Faculty of Medicine, Second Faculty of Medicine
- Ntrk1 mutation co-segregating with bipolar disorder and inherited kidney disease in a multiplex family causes defects in neuronal growth and depression-like behavior in mice2020 | First Faculty of Medicine
- Association between neuromedin U gene variants and overweight and obesity2006 | Third Faculty of Medicine, Second Faculty of Medicine
- Genetic evidence that HNF-1 alpha-dependent transcriptional control of HNF-4 alpha is essential for human pancreatic beta cell function2002 | Third Faculty of Medicine
- Isolated X-Linked Hypertrophic Cardiomyopathy Caused by a Novel Mutation of the Four-and-a-Half LIM Domain 1 Gene2013 | First Faculty of Medicine
- KMT2B Rare Missense Variants in Generalized Dystonia2017 | First Faculty of Medicine
- Exon 5 of the RET proto-oncogene: A newly detected risk exon for familial medullary thyroid carcinoma, a novel germ-line mutation Gly321 Arg2005 | Second Faculty of Medicine
- Exon 5 of the RET proto-oncogene: A newly detected risk exon for familial medullary thyroid carcinoma, a novel germ-line mutation Gly321Arg2005 | First Faculty of Medicine, Second Faculty of Medicine, Central Library of Charles University, Faculty of Medicine in Hradec Králové
- The Common p.R114W HNF4A Mutation Causes a Distinct Clinical Subtype of Monogenic Diabetes2016 | Second Faculty of Medicine
- Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy2002 | Second Faculty of Medicine
- Functional Analyses of HNF1A-MODY Variants Refine the Interpretation of Identified Sequence Variants2020 | Second Faculty of Medicine
- Genetic Variation in Renal Expression of Folate Receptor 1 (Folr1) Gene Predisposes Spontaneously Hypertensive Rats to Metabolic Syndrome2016 | First Faculty of Medicine
- Paroxysmal exercise-induced dystonia within the phenotypic spectrum of ECHS1 deficiency2016 | First Faculty of Medicine
- Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations2017 | Second Faculty of Medicine