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RNDr. Petra Dušátková Ph.D.
External academic staff at Second Faculty of Medicine
68 publications
Publications
publication
Choledochal Cyst with 17q12 Chromosomal Duplication
2018 |
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
The Common p.R114W HNF4A Mutation Causes a Distinct Clinical Subtype of Monogenic Diabetes
2016 |
Second Faculty of Medicine
publication
De novo mutations of GCK, HNF1A and HNF4A may be more frequent in MODY than previously assumed
2014 |
Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport
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
Lessons from whole-exome sequencing in MODYX families
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
Glucokinase diabetes in 103 families from a country-based study in the Czech Republic: geographically restricted distribution of two prevalent GCK mutations
2010 |
Second Faculty of Medicine, Third Faculty of Medicine
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