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Mutation analysis
Person
Class
Person
Publication
Programmes
Věra Kebrdlová
Person without affiliation with CUNI
59 publications
Publications
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
Mutation analysis of the MYH gene in unrelated Czech APC mutation-negative polyposis patients
2007 |
First Faculty of Medicine
publication
Familial adenomatous polyposis - novel molecular diagnostic techniques
2006 |
First Faculty of Medicine
publication
Hereditary forms of colorectal adenomatous polyposis
2006 |
First Faculty of Medicine
publication
Complex genetic analysis of SHOX gene in patients with dyschondrosteosis or idiopathic short stature
Publication without faculty affiliation
publication
Mutation analysis of APC and MYH gene in FAP families
Publication without faculty affiliation
publication
Mutation analysis of the MYH gene in unrelated Czech APC mutation-negative polyposis patients
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
Analysis of common SHOX gene sequence variants and similar to 4.9-kb PAR1 deletion in ISS patients
+1
2014 |
Faculty of Science, First Faculty of Medicine
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