Publikace
- Analysis of children with familial short stature: who should be indicated for genetic testing?2023 | 2. lékařská fakulta
- Short Stature in a Boy with Multiple Early-Onset Autoimmune Conditions due to a STAT3 Activating Mutation: Could Intracellular Growth Hormone Signalling Be Compromised?2017 | 2. lékařská fakulta
- High incidence of heterozygous ABCC8 and HNF1A mutations in Czech patients with congenital hyperinsulinism2015 | 3. lékařská fakulta, 1. lékařská fakulta, 2. lékařská fakulta
- De novo mutations of GCK, HNF1A and HNF4A may be more frequent in MODY than previously assumed2014 | 1. lékařská fakulta, Fakulta tělesné výchovy a sportu, 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
- Search for a time- and cost-saving genetic testing strategy for maturity-onset diabetes of the young2022 | 2. lékařská fakulta, Matematicko-fyzikální fakulta
- Response to Letter to the Editor from Youn Hee Jee: Familial Short Stature - A New Phenotype of Growth Plate Collagenopathies2022 | 2. lékařská 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
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