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PAR1
Publication
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Publication
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publication
PAR1 deletion/duplication in patients with dyschondrosteosis or idiopathic short stature
Publication without faculty affiliation
publication
Použití metody MLPA při diagnostice mikrodelecí PAR1 oblasti
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
publication
The MLPA Metod in diagnostic of SHOX gene and PAR1 deletions
Publication without faculty affiliation
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
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
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
SHOX gene deficiency - a cause of familial short stature.
2010 |
First Faculty of Medicine
publication
Detection of SHOX gene aberrations in routine diagnostic practice and evaluation of phenotype scoring form effectiveness
2017 |
First Faculty of Medicine
publication
SHOX gene deficiency - a cause of familial short stature
2010 |
Second Faculty of Medicine
publication
IKZF1(plus) Defines a New Minimal Residual Disease-Dependent Very-Poor Prognostic Profile in Pediatric B-Cell Precursor Acute Lymphoblastic Leukemia
2018 |
Second Faculty of Medicine
publication
Genomic landscape of B-other acute lymphoblastic leukemia in an adult retrospective cohort with a focus on BCR-ABL1-like subtype
2021 |
First Faculty of Medicine