Publications
- Could a combination of heterozygous ABCC8 and KCNJ11 mutations cause congenital hyperinsulinism?2017 | 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
- 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
- SALL4 phenotype in four generations of one family: An interplay of the upper limb, kidneys, and the pituitary2024 | Second Faculty of Medicine
- Paediatric diabetes subtypes in a consanguineous population: a single-centre cohort study from Kurdistan, Iraq2024 | Second Faculty of Medicine
- Genetic testing of children with familial tall stature: is it worth doing?2024 | Second Faculty of Medicine
- Monogenic diabetes mellitus hidden in autoantibody-negative diabetes mellitus2023 | Second Faculty of Medicine
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