Publications
- Aetiology and treatment of neonatal diabetes2019 | Second Faculty of Medicine
- Choledochal Cyst with 17q12 Chromosomal Duplication2018 | Second Faculty of Medicine
- The Common p.R114W HNF4A Mutation Causes a Distinct Clinical Subtype of Monogenic Diabetes2016 | Second Faculty of Medicine
- Frameshift mutations in the insulin gene leading to prolonged molecule of insulin in two families with Maturity-Onset Diabetes of the Young2015 | Second Faculty of Medicine, Third Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport
- 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
- Familial mild hyperglycemia associated with a novel ABCC8-V84I mutation within three generations2011 | 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
Loading network view...