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List of works by Katerina Hirschfeldova

Analysis of common SHOX gene sequence variants and ~4.9-kb PAR1 deletion in ISS patients.

scientific article published in August 2014

Bone geometry and volumetric bone density at the radius in patients with isolated SHOX deficiency

scientific article published on 20 February 2013

Comparison of SHOX and associated elements duplications distribution between patients (Lėri-Weill dyschondrosteosis/idiopathic short stature) and population sample.

scientific article published on 16 June 2017

Cryptic chromosomal rearrangements in children with idiopathic mental retardation in the Czech population.

scientific article published on 7 April 2011

Detection of SHOX gene aberrations in routine diagnostic practice and evaluation of phenotype scoring form effectiveness.

scientific article published on 6 October 2016

Impact of apolipoprotein A5 variants on statin treatment efficacy

scientific article

Mutation analysis of TRPS1 gene including core promoter, 5'UTR, and 3'UTR regulatory sequences with insight into their organization.

scientific article published on 5 November 2016

Prepubertal girls with Turner syndrome and children with isolated SHOX deficiency have similar bone geometry at the radius

scientific article published on 10 May 2013

SHOX gene defects and selected dysmorphic signs in patients of idiopathic short stature and Léri-Weill dyschondrosteosis

scientific article published on 14 October 2011

The apo(a) gene (TTTTA)n promoter polymorphism and its association with variability in exons of the kringle IV types 8 to 10.

scientific article published on 5 April 2009

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