- Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes2023 | 1. lékařská fakulta
- Functional Analyses of HNF1A-MODY Variants Refine the Interpretation of Identified Sequence Variants2020 | 2. lékařská fakulta
- Comprehensive Assessment of BARD1 Messenger Ribonucleic Acid Splicing With Implications for Variant Classification2019 | 1. lékařská fakulta
- Stanovení protilátek proti deamidovanému gliadinu/tkáňové transglutaminase u pacientů s protilátkami proti gliadinu a kravskému mlékuPublikace bez příslušnosti k fakultě
- Ovarian cancer pathology characteristics as predictors of variant pathogenicity in BRCA1 and BRCA22023 | 1. lékařská fakulta
- Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia2022 | 1. lékařská fakulta
- Familial short stature - a novel phenotype of growth plate collagenopathies2021 | 2. lékařská fakulta
- Clinical utility of FLNC variants identified in 4 young Czech people with sudden cardiac arrest for clinical management of their at risk relatives2019 | 2. lékařská fakulta
- Bicuspid aortic valve: a pilot candidate gene-based approach in a representative Czech cohor2020 | 2. lékařská fakulta
- Post-mortem genetic testing in sudden cardiac death and genetic screening of relatives at risk: lessons learned from a Czech pilot multidisciplinary study2023 | 2. lékařská fakulta, 1. lékařská fakulta, Fakulta tělesné výchovy a sportu, Ústřední knihovna, Lékařská fakulta v Plzni, 3. lékařská fakulta, Lékařská fakulta v Hradci Králové
- Analysis of children with familial short stature: who should be indicated for genetic testing?2023 | 2. lékařská fakulta
- Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage Sensing and Pore Domain of KCNH52023 | 2. lékařská fakulta
- The genetic landscape of children born small for gestational age with persistent short stature (SGA-SS)2024 | 2. lékařská fakulta