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Aplasia
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MUDr. Eva Dortová
Academic staff at Faculty of Medicine in Pilsen
39 publications
Publications
publication
FATCO syndrome - fibular aplasia, tibial campomelia and oligosyndactyly
2011 |
First Faculty of Medicine, Faculty of Medicine in Pilsen
publication
A rare cause of intrauterine and postnatal growth restriction in a full-term infant
2019 |
Faculty of Medicine in Pilsen
publication
New genetic causes of primary adrenal insufficiency
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
Pyridoxine-dependent Epilepsy - Case Reports
2017 |
Faculty of Medicine in Pilsen
publication
Newborn with collection of fluid in the anterior mediastinum - a casuist
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
The importance of continuity in the care for premature and risk infants at NICU and during follow-up
2015 |
First Faculty of Medicine, Faculty of Medicine in Pilsen
publication
What a pediatrician should have to know about a very birth weight newborn?
2015 |
Faculty of Medicine in Pilsen
publication
Extremely hypotrophic newborn of mother with systemic lupus erythematosus and antiphospholipid syndrome
2014 |
Faculty of Medicine in Pilsen
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