Publikace
- Short stature in a boy with atypical progeria syndrome due to LMNA c.433G>A [p.(Glu145Lys)]: Apparent growth hormone deficiency but poor response to growth hormone therapy2019 | 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
- MODY in Ukraine: genes, clinical phenotypes and treatment2017 | 2. lékařská fakulta
- Novel glucokinase gene mutation in the first Macedonian family tested for MODY2017 | 2. lékařská fakulta
- Substantial proportion of MODY among multiplex families participating in a Type 1 diabetes prediction programme2016 | 2. lékařská fakulta
- The Common p.R114W HNF4A Mutation Causes a Distinct Clinical Subtype of Monogenic Diabetes2016 | 2. lékařská fakulta
- Frameshift mutations in the insulin gene leading to prolonged molecule of insulin in two families with Maturity-Onset Diabetes of the Young2015 | 2. lékařská fakulta, 3. lékařská fakulta, 1. lékařská fakulta, Fakulta tělesné výchovy a sportu
- Hepatic phenotypes of HNF1B gene mutations: A case of neonatal cholestasis requiring portoenterostomy and literature review2015 | 2. lékařská fakulta, 1. lékařská fakulta, Fakulta tělesné výchovy a sportu
- High incidence of heterozygous ABCC8 and HNF1A mutations in Czech patients with congenital hyperinsulinism2015 | 2. lékařská fakulta, 3. lékařská fakulta, 1. lékařská fakulta
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