Publications
- Functional Analyses of HNF1A-MODY Variants Refine the Interpretation of Identified Sequence Variants2020 | Second Faculty of Medicine
- Could a combination of heterozygous ABCC8 and KCNJ11 mutations cause congenital hyperinsulinism?2017 | Second Faculty of Medicine
- 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 | Second Faculty of Medicine
- Novel calcium-sensing receptor cytoplasmic tail deletion mutation causing autosomal dominant hypocalcemia: molecular and clinical study2016 | Second Faculty of Medicine
- The Common p.R114W HNF4A Mutation Causes a Distinct Clinical Subtype of Monogenic Diabetes2016 | Second Faculty of Medicine
- High incidence of heterozygous ABCC8 and HNF1A mutations in Czech patients with congenital hyperinsulinism2015 | Second Faculty of Medicine, Third Faculty of Medicine, First Faculty of Medicine
- Is genetic testing in children with growth hormone deficiency clinically justified?2013 | Second Faculty of Medicine
- HNF1A mutation presenting with fetal macrosomia and hypoglycemia in childhood prior to onset of overt diabetes +12011 | Second Faculty of Medicine, Third Faculty of Medicine
- The genetic landscape of children born small for gestational age with persistent short stature (SGA-SS)2024 | Second Faculty of Medicine
- Integrative role of the SALL4 gene: From thalidomide embryopathy to genetic defects of the upper limb, internal organs, cerebral midline, and pituitary2024 | Second Faculty of Medicine
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