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MUDr. Barbora Obermannová Ph.D.
Academic staff at Second Faculty of Medicine
75 publications
Publications
publication
Aetiology and treatment of neonatal diabetes
2019 |
Second Faculty of Medicine
publication
Could a combination of heterozygous ABCC8 and KCNJ11 mutations cause congenital hyperinsulinism?
2017 |
Second Faculty of Medicine
publication
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
publication
Combined pituitary hormone deficiency due to gross deletions in the POU1F1 (PIT-1) and PROP1 genes
2017 |
Second Faculty of Medicine
publication
Novel calcium-sensing receptor cytoplasmic tail deletion mutation causing autosomal dominant hypocalcemia: molecular and clinical study
2016 |
Second Faculty of Medicine
publication
Genesis of two most prevalent PROP1 gene variants causing combined pituitary hormone deficiency in 21 populations
2016 |
Second Faculty of Medicine
publication
High incidence of heterozygous ABCC8 and HNF1A mutations in Czech patients with congenital hyperinsulinism
2015 |
First Faculty of Medicine, Second Faculty of Medicine, Third Faculty of Medicine
publication
High Prevalence of PROP1 Defects in Lithuania: Phenotypic Findings in an Ethnically Homogenous Cohort of Patients With Multiple Pituitary Hormone Deficiency
2014 |
Second Faculty of Medicine
publication
HNF1A mutation presenting with fetal macrosomia and hypoglycemia in childhood prior to onset of overt diabetes
+1
2011 |
Second Faculty of Medicine, Third Faculty of Medicine
publication
Lucas who likes horses
2011 |
Second Faculty of Medicine
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