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S=1
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RNDr. Kateřina Hirschfeldová Ph.D.
Academic staff at First Faculty of Medicine
32 publications
Publications
publication
Prepubertal Girls With Turner Syndrome and Children With Isolated SHOX Deficiency Have Similar Bone Geometry at the Radius
2013 |
Faculty of Science, First Faculty of Medicine, Faculty of Mathematics and Physics, Second Faculty of Medicine
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
SHOX gene deficiency - a cause of familial short stature.
2010 |
First Faculty of Medicine
publication
Paraoxonase 1 gene polymorphisms and enzyme activities in diabetes mellitus
2008 |
First Faculty of Medicine
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
5. Sequencing
2023 |
First Faculty of Medicine, Third Faculty of Medicine
publication
Improvement of Diagnostic Yield by an Additional Amplicon Module to Hybridization-Based Next-Generation Sequencing Panels
2022 |
First Faculty of Medicine
publication
Evidence for the Association between the Intronic Haplotypes of Ionotropic Glutamate Receptors and First-Episode Schizophrenia
2021 |
Faculty of Science, First Faculty of Medicine, Central Library of Charles University
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