Publikace
- Search for a time- and cost-saving genetic testing strategy for maturity-onset diabetes of the young2022 | 2. lékařská fakulta, Matematicko-fyzikální fakulta
- NPR2 Variants Are Frequent among Children with Familiar Short Stature and Respond Well to Growth Hormone Therapy2020 | 2. lékařská fakulta
- High Prevalence of Growth Plate Gene Variants in Children With Familial Short Stature Treated With GH2019 | 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
- Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations2017 | 2. lékařská fakulta
- Hepatic phenotypes of HNF1B gene mutations: A case of neonatal cholestasis requiring portoenterostomy and literature review2015 | 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
- Analysis of children with familial short stature: who should be indicated for genetic testing?2023 | 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
- Response to Letter to the Editor from Youn Hee Jee: Familial Short Stature - A New Phenotype of Growth Plate Collagenopathies2022 | 2. lékařská fakulta
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