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MUTATIONS
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MUDr. Anna Křepelová CSc.
Academic staff at Second Faculty of Medicine
140 publications
Publications
publication
A Novel Frameshift Mutation in the AFG3L2 Gene in a Patient with Spinocerebellar Ataxia
2014 |
Second Faculty of Medicine
publication
Strategy for diagnosis, therapy and follow-up of patiens with CNS haemangioblastoma from the perspective of a neurosurgeon
2013 |
Second Faculty of Medicine
publication
Multiple primary malignancies and subtle mucocutaneous lesions associated with a novel PTEN gene mutation in a patient with Cowden syndrome: Case report
2011 |
First Faculty of Medicine, Second Faculty of Medicine, Faculty of Physical Education and Sport, Faculty of Medicine in Hradec Králové
publication
Molecular Cytogenetic Characterization in Four Pediatric Pheochromocytomas and Paragangliomas
2011 |
Faculty of Science, First Faculty of Medicine, Second Faculty of Medicine, Faculty of Physical Education and Sport
publication
Rituximab resistant evans syndrome and autoimmunity in Schimke immuno-osseous dysplasia
2011 |
First Faculty of Medicine, Second Faculty of Medicine, Faculty of Physical Education and Sport, Faculty of Medicine in Hradec Králové
publication
Molecular cytogenetic characterization of pheochromocytoma
2010 |
Faculty of Science, First Faculty of Medicine, Second Faculty of Medicine, Faculty of Mathematics and Physics, Faculty of Physical Education and Sport
publication
Paraganglioma in a 13-year-old girl: A novel SDHB gene mutation in the family?
2010 |
Faculty of Science, First Faculty of Medicine, Second Faculty of Medicine
publication
Mutations involved in colorectal carcinoma development (diagnosis, prevention)
2001 |
First Faculty of Medicine
publication
Two Novel Germline Mutations (Y548X and K732X) of the MLH1 Gene in Czech Population Hereditar Nonpolyposis Colorectal Cancer
2000 |
First Faculty of Medicine
publication
ROR2 gene mutation of autosomal recessive Robinow-syndrome
Publication without faculty affiliation
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