Publications by authors named "Martin Reboun"

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Long-Term Evaluation of Biomarkers in the Czech Cohort of Gaucher Patients.
Věra Malinová, Helena Poupětová, Martin Řeboun, Lenka Dvořáková, Stella Reichmannová

Int J Mol Sci· September 2023

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Pitfalls of X-chromosome inactivation testing in females with Fabry disease.
Martin Řeboun, Jakub Sikora, Martin Magner, Helena Wiederlechnerová, Alena Černá

Am J Med Genet A· July 2022

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X-linked adrenoleukodystrophy: phenotype-genotype correlation in hemizygous males and heterozygous females with ABCD1 mutations.
Marketa Zemanova, Petr Chrastina, Lenka Dvorakova, Martin Reboun, Hana Vlaskova

Neuro Endocrinol Lett· September 2021

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Transcript, protein, metabolite and cellular studies in skin fibroblasts demonstrate variable pathogenic impacts of NPC1 mutations.
Dita Musalkova, Filip Majer, Ladislav Kuchar, Ondrej Luksan, Befekadu Asfaw, Martin Reboun

Orphanet J Rare Dis· April 2020

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Alu-mediated Xq24 deletion encompassing CUL4B, LAMP2, ATP1B4, TMEM255A, and ZBTB33 genes causes Danon disease in a female patient.
Filip Majer, Bohdan Kousal, Petr Dusek, Lenka Piherova, Martin Reboun

Am J Med Genet A· January 2020

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LAMP2 exon-copy number variations in Danon disease heterozygote female probands: Infrequent or underdetected?
Filip Majer, Lenka Piherova, Martin Reboun, Veronika Stara, Ondrej Pelak

Am J Med Genet A· November 2018

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Variable X-chromosome inactivation and enlargement of pericentral glutamine synthetase zones in the liver of heterozygous females with OTC deficiency.
Dita Musalkova, Eva Sticova, Martin Reboun, Jitka Sokolova, Jakub Krijt

Virchows Arch· June 2018

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Activity of the liver enzyme ornithine carbamoyltransferase (OTC) in blood: LC-MS/MS assay for non-invasive diagnosis of ornithine carbamoyltransferase deficiency.
Jakub Krijt, Jitka Sokolová, Pavel Ješina, Lenka Dvořáková, Martin Řeboun

Clin Chem Lab Med· July 2017

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A novel RET/PTC variant detected in a pediatric patient with papillary thyroid cancer without ionization history.
Tereza Halkova, Sarka Dvorakova, Eliska Vaclavikova, Vlasta Sykorova, Josef Vcelak, Martin Reboun

Hum Pathol· December 2015

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Search for new genetic biomarkers in poorly differentiated and anaplastic thyroid carcinomas using next generation sequencing.
Vlasta Sykorova, Sarka Dvorakova, Josef Vcelak, Eliska Vaclavikova, Tereza Halkova, Martin Reboun

Anticancer Res· April 2015

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