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Down´s syndrome
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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
Analysis of common SHOX gene sequence variants and similar to 4.9-kb PAR1 deletion in ISS patients
+1
2014 |
Faculty of Science, First Faculty of Medicine
publication
Bone Geometry and Volumetric Bone Density at the Radius in Patients with Isolated SHOX Deficiency
2013 |
Faculty of Science, First Faculty of Medicine, Faculty of Mathematics and Physics, Second Faculty of Medicine
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
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
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