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SEQUENCE
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Ing. Jitka Štekrová
External academic staff at First Faculty of Medicine
149 publications
Publications
publication
Mutational Analysis of ACTN4, Encoding alpha-Actinin 4, in Patients with Focal Segmental Glomerulosclerosis Using HRM Method
2013 |
First Faculty of Medicine
publication
Novel mutations of the APC gene and genetic consequences of splicing mutations in the Czech FAP families
2013 |
First 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
TRPC6 gene variants in Czech adult patients with focal segmental glomerulosclerosis and minimal change disease
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
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