Martin Řeboun

Search for new genetic biomarkers in poorly differentiated and anaplastic thyroid carcinomas using next generation sequencing.

Vlasta Sýkorová, Šárka Dvořáková, Josef Včelák et al. · PubMed · 2015 · 60 citations

Medicine, Genetics, Molecular Genetics +17

Genotype–phenotype correlation in 44 Czech, Slovak, Croatian and Serbian patients with mucopolysaccharidosis type<scp>II</scp>

Lenka Dvořáková, Hana Vlášková, Adrijan Sarajlija et al. · Clinical Genetics · 2016 · 35 citations

Life Sciences, Genetics, Human Genetics +15

X-Chromosome Inactivation Analysis in Different Cell Types and Induced Pluripotent Stem Cells Elucidates the Disease Mechanism in a Rare Case of Mucopolysaccharidosis Type II in a Female

Martin Řeboun, Jitka Rybová, Robert Dobrovolný et al. · Folia Biologica · 2016 · 26 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Variable X-chromosome inactivation and enlargement of pericentral glutamine synthetase zones in the liver of heterozygous females with OTC deficiency

Dita Mušálková, Eva Sticová, Martin Řeboun et al. · Archiv für Pathologische Anatomie und Physiologie und für Klinische Medicin · 2018 · 18 citations

Life Sciences, Genetics, Molecular Genetics +16

Pitfalls of X‐chromosome inactivation testing in females with Fabry disease

Martin Řeboun, Jakub Sikora, Martin Magner et al. · American Journal of Medical Genetics Part A · 2022 · 15 citations

Life Sciences, Genetics, Molecular Genetics +16