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Adenomatous
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
Novel mutations of the APC gene and genetic consequences of splicing mutations in the Czech FAP families
2013 |
First Faculty of Medicine
publication
Familial adenomatous polyposis
2009 |
First Faculty of Medicine
publication
Single nucleotide c.645+32C>T substitution in the APC gene is a non-pathogenic polymorphism appearing in about 16% of the Czech population
2008 |
First Faculty of Medicine
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
publication
Mutational screening of inverted formin 2 in adult-onset focal segmental glomerulosclerosis or minimal change patients from the Czech Republic
2018 |
First Faculty of Medicine
publication
Molecular Oncology in Case Reports
2017 |
First Faculty of Medicine, Third Faculty of Medicine
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