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MUDr. Anna Křepelová CSc.
Academic staff at Second Faculty of Medicine
140 publications
Publications
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
Increased expression of inhibitor of apoptosis proteins, survivin and XIAP, in non-small cell lung carcinoma
2009 |
First Faculty of Medicine, Second Faculty of Medicine, Central Library of Charles University
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
publication
Objasnenie príčiny dysplázie genitálu u syna a jeho otca
2023 |
Second Faculty of Medicine
publication
Zimmermann-Laband syndrome in monozygotic twins with a mild neurobehavioral phenotype lacking gingival overgrowth-A case report of a novel KCNN3 gene variant
2022