Publications
- Functional Analyses of HNF1A-MODY Variants Refine the Interpretation of Identified Sequence Variants2020 | Second Faculty of Medicine
- NPR2 Variants Are Frequent among Children with Familiar Short Stature and Respond Well to Growth Hormone Therapy2020 | Second Faculty of Medicine
- Aetiology and treatment of neonatal diabetes2019 | Second Faculty of Medicine
- Monogenic form of autoimmune diabetes as a part of dysregulation of immune system2018 | 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
- Combined pituitary hormone deficiency due to gross deletions in the POU1F1 (PIT-1) and PROP1 genes2017 | Second Faculty of Medicine
- The Common p.R114W HNF4A Mutation Causes a Distinct Clinical Subtype of Monogenic Diabetes2016 | Second Faculty of Medicine
- Hepatic phenotypes of HNF1B gene mutations: A case of neonatal cholestasis requiring portoenterostomy and literature review2015 | Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport
- Liver, kidneys and diabetes: three faces of HNF1B gene deficit2014 | Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport
- Anophthalmia, hearing loss, abnormal pituitary development and response to growth hormone therapy in three children with microdeletions of 14q22q232014 | Second Faculty of Medicine
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