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varianty
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Mgr. Martina Florianová Ph.D.
Academic staff at First Faculty of Medicine
6 publications
Publications
publication
SHOX gene polymorphic variants and their association with isolated short stature
Publication without faculty affiliation
publication
Detection of SHOX gene aberrations in routine diagnostic practice and evaluation of phenotype scoring form effectiveness
2017 |
First Faculty of Medicine
publication
Novel mutations of the APC gene and genetic consequences of splicing mutations in the Czech FAP families
2013 |
First Faculty of Medicine
publication
SHOX gene defects and selected dysmorphic signs in patients of idiopathic short stature and Léri-Weill dyschondrosteosis
2012 |
Faculty of Science, First Faculty of Medicine
publication
SHOX gene defects and selected dysmorphic signs in patients of idiopathic short stature and Leri-Weill dyschondrosteosis
2012 |
First Faculty of Medicine
publication
PAR1 deletion/duplication in patients with dyschondrosteosis or idiopathic short stature
Publication without faculty affiliation
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