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Leri-Weill dyschondrosteosis
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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
Comparison of SHOX and associated elements duplications distribution between patients (Lėri-Weill dyschondrosteosis/idiopathic short stature) and population sample
2017 |
Faculty of Science, First Faculty of Medicine
publication
Rare congenital chromosomal aberration dic(X;Y)(p22.33;p11.32) in a patient with primary myelofibrosis
2016 |
First Faculty of Medicine, Central Library of Charles University
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Detection of SHOX gene aberrations in routine diagnostic practice and evaluation of phenotype scoring form effectiveness
2017 |
First Faculty of Medicine
publication
Prepubertal Girls With Turner Syndrome and Children With Isolated SHOX Deficiency Have Similar Bone Geometry at the Radius
2013 |
Faculty of Science, First Faculty of Medicine, Faculty of Mathematics and Physics, Second Faculty of Medicine
publication
Analysis of common SHOX gene sequence variants and similar to 4.9-kb PAR1 deletion in ISS patients
2014 |
Faculty of Science, 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