- DFNB35 due to a novel mutation in the ESRRB gene in a Czech consanguineous family2012 | Ústřední knihovna, 2. lékařská fakulta
- Louis-Barové syndrom (ataxia teleangiectasia) v konsanguinní rodině2006 | 2. lékařská fakulta
- The invaluable role of consanguinity in providing insight into paediatric endocrine conditions: Lessons learned from congenital hyperinsulinism, monogenic diabetes, and short stature2022 | 2. lékařská fakulta
- Congenital hyperinsulinism caused by novel homozygous katp channel gene variants may be linked to unexplained neonatal deaths among kurdish consanguineous families2020 | 2. lékařská fakulta
- A progressive KY myopathy could be caused by a missense pathogenic variant2023 | 2. lékařská fakulta
- Hereditary haemochromatosis caused by homozygous HJV mutation evolved through paternal disomy2015 | Ústřední knihovna, 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
- Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy2020 | Ústřední knihovna
- Brittle cornea syndrome: Disease-causing mutations in ZNF469 and two novel variants identified in a patient followed for 26 years2020 | 1. lékařská fakulta
- Cancer risk of heterozygotes with the NBN founder mutation2007 | 2. lékařská fakulta
- Recessive ITPA Mutations Cause an Early Infantile Encephalopathy2015 | 1. lékařská fakulta
- Paediatric diabetes subtypes in a consanguineous population: a single-centre cohort study from Kurdistan, Iraq2024 | 2. lékařská fakulta
- Epilepsy and sudden unexpected death in epilepsy in a mouse model of human SCN1B-linked developmental and epileptic encephalopathy2023 | 2. lékařská fakulta