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RNDr. Kateřina Hirschfeldová Ph.D.
Academic staff at First Faculty of Medicine
32 publications
Publications
publication
Mutation analysis of TRPS1 gene including core promoter, 5 ' UTR, and 3 ' UTR regulatory sequences with insight into their organization
2017 |
Faculty of Science, First Faculty of Medicine, Faculty of Mathematics and Physics
publication
Detection of SHOX gene aberrations in routine diagnostic practice and evaluation of phenotype scoring form effectiveness
2017 |
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
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
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
MLPA analysis in children with mental retardation
Publication without faculty affiliation
publication
5. Sequencing
2023 |
First Faculty of Medicine, Third Faculty of Medicine
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