- Homozygosity mapping of a second gene locus for hereditary combined deficiency of vitamin K-Dependent clotting factors (FMFD) to chromosome 162004 | Central Library of Charles University
- Identification, by homozygosity mapping, of a novel locus for autosomal recessive congenital ichthyosis on chromosome 17p, and evidence for further genetic heterogeneity2001 | Central Library of Charles University
- Homozygosity mapping in a family with microcephaly, mental retardation, and short stature to a Cohen syndrome region on 8q21.3-8q22.1: Redefining a clinical entity2000 | Central Library of Charles University
- Homozygosity mapping of a second gene locus for hereditary combined deficiency of vitamin K-dependent clotting factors to the centromeric region of chromosome 162002 | Central Library of Charles University
- DFNB35 due to a novel mutation in the ESRRB gene in a Czech consanguineous family2012 | Central Library of Charles University, Second Faculty of Medicine
- Recessive SLC19A2 mutations are a cause of neonatal diabetes mellitus in thiamine-responsive megaloblastic anaemia2012 | Faculty of Medicine in Pilsen
- Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia2019 | First Faculty of Medicine
- DFNB49 is an important cause of non-syndromic deafness in Czech Roma patients but not in the general Czech population2012 | Second Faculty of Medicine
- Recessive ITPA Mutations Cause an Early Infantile Encephalopathy2015 | First Faculty of Medicine