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MUDr. Anna Křepelová CSc.
Academic staff at Second Faculty of Medicine
140 publications
Publications
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
publication
Ověření nálezu změn metylace z analýzy MS-MLPA metodou přímé Sangerovy sekvenace po bisulfitové konverzi - využití v klinické laboratoři, výhody a limitace metody
2022 |
Second Faculty of Medicine
publication
Atypical presentations of DYT1 dystonia with acute craniocervical onset
2021 |
First Faculty of Medicine, Second Faculty of Medicine
publication
Late diagnosis of complete androgen insensitivity syndrome and transmission/carriers of the condition in a family with mutation c.2495G. T p.(Arg832Leu) in exon 7 of the androgen receptor gene: genetic, clinical and ethical aspects
2019 |
Second Faculty of Medicine, Faculty of Medicine in Pilsen
publication
Pediatric proctology for practice
2019 |
Second Faculty of Medicine
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