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isolation
Person
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Person
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Ing. Jitka Štekrová
External academic staff at First Faculty of Medicine
149 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
SHOX gene polymorphic variants and their association with isolated short stature
Publication without faculty affiliation
publication
Ambulatory blood pressure and hypertension control in children with autosomal recessive polycystic kidney disease: clinical experience from two central European tertiary centres
2022 |
First Faculty of Medicine, Second Faculty of Medicine, Faculty of Physical Education and Sport
publication
Improvement of Diagnostic Yield by an Additional Amplicon Module to Hybridization-Based Next-Generation Sequencing Panels
2022 |
First Faculty of Medicine
publication
Results of targeted next-generation sequencing in children with cystic kidney diseases often change the clinical diagnosis
2020 |
First Faculty of Medicine, Second Faculty of Medicine
publication
Two Czech patients with familial adenomatous polyposis presenting mosaicism in APC gene
2019 |
First Faculty of Medicine
publication
Bilineal inheritance of pathogenic PKD1 and PKD2 variants in a Czech family with autosomal dominant polycystic kidney disease - a case report
2018 |
First Faculty of Medicine
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