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Filip Majer

4PUBLICATIONS

30CO-AUTHORS

Gene expression (incl. microarray and other genome-wide approaches)Instrumental methods (excl. immunological and bioassay methods)Optical technologyNeurology and neuromuscular diseases

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Publications (4)

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|Feb 27, 2026

Analyses of <i>ATP7B</i> mRNA in Nasopharyngeal Swab Samples Increase Yields of Wilson Disease Molecular Genetic Diagnostics.

Lenka Steiner Mrázová, Alena Vrbacká, Filip Majer

|Oct 01, 2021

Easy and fast PCR-based protocol allows characterization of breakpoints resulting from Alu/Alu-mediated genomic rearrangements.

Filip Majer, Jakub Sikora

|Jun 14, 2020

Pigmentary retinopathy can indicate the presence of pathogenic LAMP2 variants even in somatic mosaic carriers with no additional signs of Danon disease.

Bohdan Kousal, Filip Majer, Hana Vlaskova

|Apr 28, 2020

Spinal muscular atrophy caused by a novel Alu-mediated deletion of exons 2a-5 in SMN1 undetectable with routine genetic testing.

Ivana Jedličková, Anna Přistoupilová, Lenka Nosková

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Frequent Collaborators

3 joint publications

Jakub Sikora

2 joint publications

Ivana Jedličková

2 joint publications

Lenka Nosková

2 joint publications

Viktor Stránecký

1 joint publications

Anna Přistoupilová

1 joint publications

Hana Hartmannová

1 joint publications

Kateřina Hodaňová

1 joint publications

Helena Trešlová

1 joint publications

Peter Solár

1 joint publications

Stanislav Kmoch

Frequent Collaborators

3 joint publications

Jakub Sikora

2 joint publications

Ivana Jedličková

2 joint publications

Lenka Nosková

2 joint publications

Viktor Stránecký

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