Publications by authors named "Julia Stellmachova"

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Ovarian tumors and genetic predisposition.
Júlia Štellmachová, Petr Vrtěl, Radek Vrtěl, Mária Janíková, Kristýna Kolaříková

Ceska Gynekol· July 2022

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SPG11: clinical and genetic features of seven Czech patients and literature review.
Kristyna Doleckova, Jan Roth, Julia Stellmachova, Tomas Gescheidt, Vladimir Sigut

Neurol Res· May 2022

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Detection of Unknown and Rare Pathogenic Variants in Antithrombin, Protein C and Protein S Deficiency Using High-Throughput Targeted Sequencing.
Petr Vrtel, Ludek Slavik, Radek Vodicka, Julia Stellmachova, Martin Prochazka

Diagnostics (Basel)· April 2022

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Haplotype analysis of the X chromosome in patients with Turner syndrome in order to verify the possible effect of imprinting on selected symptoms.
Petr Vrtel, Radek Vrtel, Eva Klaskova, Dita Vrbicka, Katerina Adamova, Julia Stellmachova

Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub· March 2022

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Whole Exome Sequencing Study in Isolated South-Eastern Moravia (Czechia) Population Indicates Heterogenous Genetic Background for Parkinsonism Development.
Kristyna Kolarikova, Radek Vodicka, Radek Vrtel, Julia Stellmachova, Martin Prochazka

Front Neurosci· March 2022

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High-Throughput Sequencing Haplotype Analysis Indicates in Gene a Potential Risk Factor for Endemic Parkinsonism in Southeastern Moravia, Czech Republic.
Kristyna Kolarikova, Radek Vodicka, Radek Vrtel, Julia Stellmachova, Martin Prochazka

Life (Basel)· January 2022

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Two types of recessive hereditary spastic paraplegia in Roma patients in compound heterozygous state; no ethnically prevalent variant found.
Anna Uhrova Meszarosova, Pavel Seeman, Jan Jencik, Jana Drabova, Renata Cibochova, Julia Stellmachova

Neurosci Lett· March 2020

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Searching for genetic variants associated with thrombophilia.
Petr Vrtěl, Luděk Slavík, Radek Vodička, Martin Procházka, Jana Procházková

Cas Lek Cesk· June 2019

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