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prof. MUDr. Eva Seemanová DrSc.
External person at Second Faculty of Medicine
130 publications
Publications
publication
Characterisation of ATM mutations in Slavic Ataxia telangiectasia patients
2011 |
First Faculty of Medicine, Second Faculty of Medicine
publication
Li-Fraumeni Syndrome
2003 |
First Faculty of Medicine, Second Faculty of Medicine, Faculty of Physical Education and Sport
publication
Nibrin, a novel DNA double-strand break repair protein, is mutated in nijmegen breakage syndrome
1998 |
Second Faculty of Medicine
publication
The gene for the ataxia-telangiectasia variant, Nijmegen breakage syndrome, maps to a 1-cM interval on chromosome 8q21
1997 |
Second Faculty of Medicine
publication
A method for detection of germinal mutations in the p53 tumor suppressor gene
1996 |
Second Faculty of Medicine
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
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