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Philadelphia chromosome
Person
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Person
Publication
Programmes
Mgr. Martina Florianová Ph.D.
Academic staff at First Faculty of Medicine
6 publications
Publications
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
publication
SHOX gene polymorphic variants and their association with isolated short stature
Publication without faculty affiliation
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