Publikace
- High Prevalence of Growth Plate Gene Variants in Children With Familial Short Stature Treated With GH2019 | 2. lékařská fakulta
- Screening of monogenic autoimmune diabetes among children with type 1 diabetes and multiple autoimmune diseases: is it worth doing?2019 | 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
- Substantial proportion of MODY among multiplex families participating in a Type 1 diabetes prediction programme2016 | 2. lékařská fakulta
- High Prevalence of PROP1 Defects in Lithuania: Phenotypic Findings in an Ethnically Homogenous Cohort of Patients With Multiple Pituitary Hormone Deficiency2014 | 2. lékařská fakulta
- Má genetické vyšetření u dětí s nedostatkem růstového hormonu klinický význam?2013 | 2. lékařská fakulta
- Glucokinase diabetes in 103 families from a country-based study in the Czech Republic: geographically restricted distribution of two prevalent GCK mutations2010 | 2. lékařská fakulta, 3. lékařská fakulta
- Variants of CARD15, TNFA and PTPN22 and susceptibility to Crohn's disease in the Czech population: high frequency of the CARD15 1007fs2008 | 2. lékařská fakulta, 1. lékařská fakulta, Fakulta tělesné výchovy a sportu
- The genetic landscape of children born small for gestational age with persistent short stature (SGA-SS)2024 | 2. lékařská fakulta
- Integrative role of the SALL4 gene: From thalidomide embryopathy to genetic defects of the upper limb, internal organs, cerebral midline, and pituitary2024 | 2. lékařská fakulta
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