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RNDr. Petra Dušátková Ph.D.
External academic staff at Second Faculty of Medicine
68 publications
Publications
publication
Functional Analyses of HNF1A-MODY Variants Refine the Interpretation of Identified Sequence Variants
2020 |
Second Faculty of Medicine
publication
NPR2 Variants Are Frequent among Children with Familiar Short Stature and Respond Well to Growth Hormone Therapy
2020 |
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
Choledochal Cyst with 17q12 Chromosomal Duplication
2018 |
Second Faculty of Medicine
publication
MODY in Ukraine: genes, clinical phenotypes and treatment
2017 |
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 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
Anophthalmia, hearing loss, abnormal pituitary development and response to growth hormone therapy in three children with microdeletions of 14q22q23
2014 |
Second Faculty of Medicine
publication
Familial mild hyperglycemia associated with a novel ABCC8-V84I mutation within three generations
2011 |
Second Faculty of Medicine, Third Faculty of Medicine
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