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dysplasias
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Person
Publication
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Věra Kebrdlová
Person without affiliation with CUNI
59 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
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
publication
Application of the new insertion-deletion polymorphism kit for forensic identification and parentage testing on the Czech population
2013 |
First Faculty of Medicine, Faculty of Medicine in Pilsen
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
Cryptic chromosomal rearrangements in children with idiopathic mental retardation in the czech population
2011 |
Faculty of Science, First Faculty of Medicine
publication
The Number of CAG Repeats Within the Normal Allele Does Not Influence the Age of Onset in Huntington's Disease
2011 |
First Faculty of Medicine, Faculty of Physical Education and Sport
publication
Cryptic Chromosomal Rearrangements in Children with Idiopathic Mental Retardation in the Czech Population
2011 |
First Faculty of Medicine
publication
Broad genetic issues in lung cancer
2009 |
First Faculty of Medicine
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