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RNDr. Petra Dušátková Ph.D.
External academic staff at Second Faculty of Medicine
68 publications
Publications
publication
Short stature in a boy with atypical progeria syndrome due to LMNA c.433G>A [p.(Glu145Lys)]: Apparent growth hormone deficiency but poor response to growth hormone therapy
2019 |
Second Faculty of Medicine
publication
Screening of monogenic autoimmune diabetes among children with type 1 diabetes and multiple autoimmune diseases: is it worth doing?
2019 |
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
MODY in Ukraine: genes, clinical phenotypes and treatment
2017 |
Second Faculty of Medicine
publication
Novel glucokinase gene mutation in the first Macedonian family tested for MODY
2017 |
Second Faculty of Medicine
publication
Substantial proportion of MODY among multiplex families participating in a Type 1 diabetes prediction programme
2016 |
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
Frameshift mutations in the insulin gene leading to prolonged molecule of insulin in two families with Maturity-Onset Diabetes of the Young
2015 |
Second Faculty of Medicine, Third Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport
publication
Hepatic phenotypes of HNF1B gene mutations: A case of neonatal cholestasis requiring portoenterostomy and literature review
2015 |
Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport
publication
High incidence of heterozygous ABCC8 and HNF1A mutations in Czech patients with congenital hyperinsulinism
2015 |
Second Faculty of Medicine, Third Faculty of Medicine, First Faculty of Medicine
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