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SHOX gene
Publication
Class
Person
Publication
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publication
Defect in the SHOX gene as a cause of short stature - a case report
2012 |
Second Faculty of Medicine
publication
SHOX gene deficiency - a cause of familial short stature
2010 |
Second Faculty of Medicine
publication
SHOX gene deficiency - a cause of familial short stature.
2010 |
First Faculty of Medicine
publication
SHOX gene polymorphic variants and their association with isolated 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
Acute lymphoblastic leukemia in a child with Leri-Weill syndrome and complete SHOX gene deletion: A Case Report
2018 |
Second Faculty of Medicine
publication
Growth disorders due to rearrangement of SHOX gene locus
2019 |
Faculty of Medicine in Pilsen
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Použití metody MLPA při diagnostice delecí SHOX genu
Publication without faculty affiliation
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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Detection of SHOX gene aberrations in routine diagnostic practice and evaluation of phenotype scoring form effectiveness
2017 |
First Faculty of Medicine
publication
The MLPA Metod in diagnostic of SHOX gene and PAR1 deletions
Publication without faculty affiliation
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
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SHOX gene defects and selected dysmorphic signs in patients of idiopathic short stature and Leri-Weill dyschondrosteosis
2012 |
First Faculty of Medicine
publication
Léri-Weill Syndrome on the Principle of Structural Aberration of Chromosome Y (Case Report)
2018 |
Faculty of Medicine in Pilsen
publication
Current status of teatment of growth disorders
2012 |
Faculty of Medicine in Pilsen
publication
PAR1 deletion/duplication in patients with dyschondrosteosis or idiopathic short stature
Publication without faculty affiliation
publication
Contemporary therapy of growth disorders
2015 |
Faculty of Medicine in Pilsen
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Growth plate disorders causing familiar short stature
2018 |
Second 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
publication
Muscle function in Turner syndrome: normal force but decreased power
2015 |
Second Faculty of Medicine, Faculty of Mathematics and Physics