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chromosome rearrangements
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Ing. Jitka Štekrová
External academic staff at First Faculty of Medicine
149 publications
Publications
publication
Cryptic chromosomal rearrangements in children with idiopathic mental retardation in the czech population
2011 |
Faculty of Science, First Faculty of Medicine
publication
Cryptic Chromosomal Rearrangements in Children with Idiopathic Mental Retardation in the Czech Population
2011 |
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
publication
Detection of SHOX gene aberrations in routine diagnostic practice and evaluation of phenotype scoring form effectiveness
2017 |
First Faculty of Medicine
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