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MUDr. Ivan Šubrt Ph.D.
Academic staff at Faculty of Medicine in Pilsen
2 classes
76 publications
Classes
class
Clinical Genetics
E0110039 |
Faculty of Medicine in Pilsen
class
Medical Genetics
EA0110039 |
Faculty of Medicine in Pilsen
Publications
publication
Growth disorders due to rearrangement of SHOX gene locus
2019 |
Faculty of Medicine in Pilsen
publication
Molecular Genetic Testing of Diabetes Insipidus Renalis
2019 |
Faculty of Medicine in Pilsen
publication
New genetic causes of primary adrenal insufficiency
2018 |
Faculty of Medicine in Pilsen
publication
Thrombophilia testing results in patients with a first venous thromboembolic event: should the selection criteria for testing be revisited?
2017 |
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
Options and consequences of genetic testing in patients with high risk of breast and ovarian cancer due to BRCA1 and BRCA2 mutations
2015 |
Faculty of Medicine in Pilsen
publication
Surprising diagnosis of a rare endocrine disease when examining a child for short stature
2014 |
Faculty of Medicine in Pilsen
publication
The association of factor V Leiden with various clinical patterns of venous thromboembolism-the factor V Leiden paradox
2014 |
Faculty of Medicine in Pilsen
publication
Six new GJB1 mutations and their phenotypic expression in Czech CMTX1 patients
2010 |
Faculty of Medicine in Pilsen
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