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Leri-Weill dyschondrosteosis
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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
PAR1 deletion/duplication in patients with dyschondrosteosis or idiopathic short stature
Publication without faculty affiliation
publication
Complex genetic analysis of SHOX gene in patients with dyschondrosteosis or idiopathic 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
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
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
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