- Homozygosity mapping of a second gene locus for hereditary combined deficiency of vitamin K-Dependent clotting factors (FMFD) to chromosome 162004 | Ústřední knihovna
- Identification, by homozygosity mapping, of a novel locus for autosomal recessive congenital ichthyosis on chromosome 17p, and evidence for further genetic heterogeneity2001 | Ústřední knihovna
- 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 | Ústřední knihovna
- Homozygosity mapping of a second gene locus for hereditary combined deficiency of vitamin K-dependent clotting factors to the centromeric region of chromosome 162002 | Ústřední knihovna
- DFNB35 due to a novel mutation in the ESRRB gene in a Czech consanguineous family2012 | Ústřední knihovna, 2. lékařská fakulta
- Recessive SLC19A2 mutations are a cause of neonatal diabetes mellitus in thiamine-responsive megaloblastic anaemia2012 | Lékařská fakulta v Plzni
- Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia2019 | 1. lékařská fakulta
- DFNB49 is an important cause of non-syndromic deafness in Czech Roma patients but not in the general Czech population2012 | 2. lékařská fakulta
- Recessive ITPA Mutations Cause an Early Infantile Encephalopathy2015 | 1. lékařská fakulta