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MUDr. Anna Křepelová CSc.
Academic staff at Second Faculty of Medicine
140 publications
Publications
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
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
Molecular genetic analysis of pheochromocytoma and paraganglioma in the Czech patients
Publication without faculty affiliation
publication
Hereditary colorectal carcinom
Publication without faculty affiliation
publication
Genetic counselling and follow-up by patients and related with hereditable rick tumours GIT
Publication without faculty affiliation
publication
Two novel variants of the MBTPS1 gene in Czech family with Kondo-Fu type spondyloepiphyseal dysplasia and cataract
2023 |
First Faculty of Medicine, Second Faculty of Medicine
publication
Schimke immunoosseous dysplasia: an ultra-rare disease. a 20-year case series from the tertiary hospital in the Czech Republic
2023 |
Second Faculty of Medicine
publication
Father and son with a pathogenic variant c.614dup p.(Gln206Thrfs*20) in the NR5A1 gene
2023 |
Second Faculty of Medicine
publication
Ověření nálezu změn metylace z analýzy MS-MLPA metodou přímé Sangerovy sekvenace po bisulfitové konverzi – optimalizace pro diagnostiku
2023 |
Second Faculty of Medicine
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