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genomic imprinting
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MUDr. Bc. Jana Zamboryová
Academic staff at Faculty of Medicine in Pilsen
12 publications
Publications
publication
Ultrasound cardiac output monitoring in mechanically ventilated children
2021 |
Faculty of Medicine in Pilsen
publication
Monogenic diabetes MODY in childhood: a retrospective study of patients diagnosed at the Department of Pediatrics, University Hospital in Pilsen in 2000-2017
2019 |
Faculty of Medicine in Pilsen, Second Faculty of Medicine
publication
Late diagnosis of complete androgen insensitivity syndrome and transmission/carriers of the condition in a family with mutation c.2495G. T p.(Arg832Leu) in exon 7 of the androgen receptor gene: genetic, clinical and ethical aspects
2019 |
Faculty of Medicine in Pilsen, Second Faculty of Medicine
publication
New genetic causes of primary adrenal insufficiency
2018 |
Faculty of Medicine in Pilsen
publication
Autoimmune disease, familial clustering and thyroid carcinoma coexistent with autoimmune thyroiditis in children and adolescence: A cross-sectional study from the Czech Republic
2018 |
Faculty of Medicine in Pilsen
publication
First 2 cases with thiamine-responsive megaloblastic anemia in the Czech Republic, a rare form of monogenic diabetes mellitus: a novel mutation in the thiamine transporter SLC19A2 gene-intron 1 mutation c.204+2T>G
2017 |
Faculty of Medicine in Pilsen
publication
First case report of rare congenital adrenal insufficiency caused by mutations in the CYP11A1 gene in the Czech Republic
2016 |
Faculty of Medicine in Pilsen
publication
Noninvasive hemodynamic monitoring in critically ill children - USCOM. Prospective observational study
2016 |
Faculty of Medicine in Pilsen
publication
Hypoglycaemia as a cause of unconsciousness in a 15-year-old girl
2015 |
Faculty of Medicine in Pilsen
publication
Associated autoimmune diseases in childhood
+1
2015 |
Faculty of Medicine in Pilsen
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