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RASopathies
Person
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Person
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prof. MUDr. Eva Seemanová DrSc.
External person at Second Faculty of Medicine
130 publications
Publications
publication
The NBN founder mutation-Evidence for a country specific difference in age at cancer manifestation
2023 |
Second Faculty of Medicine
publication
Telomere attrition and dysfunction: a potential trigger of the progeroid phenotype in nijmegen breakage syndrome
2020 |
Second Faculty of Medicine
publication
The Slavic NBN Founder Mutation: A Role for Reproductive Fitness?
2016 |
First Faculty of Medicine, Second Faculty of Medicine, Faculty of Physical Education and Sport
publication
Paediatric nephrology
2015 |
First Faculty of Medicine, Second Faculty of Medicine, Third Faculty of Medicine, Faculty of Medicine in Hradec Králové
publication
Long Term Follow-Up in a Patient with a De Novo Microdeletion of 14q11.2 Involving CHD8
2015 |
Second Faculty of Medicine
publication
An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome
2015 |
Second Faculty of Medicine
publication
DYNC2LI1 mutations broaden the clinical spectrum of dynein-2 defects
2015 |
Second Faculty of Medicine
publication
Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome
2015 |
Second Faculty of Medicine
publication
Exome sequencing for identification of disease genes for rare syndromes. Experiences from Hamburg
2014 |
Second Faculty of Medicine
publication
Mutagenic effect of advanced paternal age in neurocardiofaciocutaneous syndrome
2014 |
Second Faculty of Medicine
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