Publikace
- Analysis of children with familial short stature: who should be indicated for genetic testing?2023 | 2. lékařská fakulta
- Search for a time- and cost-saving genetic testing strategy for maturity-onset diabetes of the young2022 | 2. lékařská fakulta, Matematicko-fyzikální fakulta
- Familial short stature - a novel phenotype of growth plate collagenopathies2021 | 2. lékařská fakulta
- A case of digenic maturity onset diabetes of the young with heterozygous variants in both HNF1Α and HNF1Β genes2021 | 2. lékařská fakulta
- NPR2 Variants Are Frequent among Children with Familiar Short Stature and Respond Well to Growth Hormone Therapy2020 | 2. lékařská fakulta
- MODY in Ukraine: genes, clinical phenotypes and treatment2017 | 2. lékařská fakulta
- Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations2017 | 2. lékařská fakulta
- An effective combination of sanger and next generation sequencing in diagnostics of primary ciliary dyskinesia2016 | 2. lékařská fakulta
- The genetic landscape of children born small for gestational age with persistent short stature (SGA-SS)2024 | 2. lékařská fakulta
- Quality of Life and Treatment Satisfaction in Participants with Maturity-Onset Diabetes of the Young: A Comparison to Other Major Forms of Diabetes2022 | 2. lékařská fakulta, Matematicko-fyzikální fakulta
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