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cytogenetic
Person
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Person
Publication
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MUDr. Anna Křepelová CSc.
Academic staff at Second Faculty of Medicine
140 publications
Publications
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
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
Chemotherapy alone may lead to a pcr negative stem cell harvest in transformed lymphoma refractory to rituximab
2003 |
First Faculty of Medicine
publication
Molecular cytogenetic characteristics of pheochromocytoma
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
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 |
Second Faculty of Medicine
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