Filip Majer
4PUBLICATIONS
30CO-AUTHORS
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Publications (4)
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|Feb 27, 2026
Analyses of ATP7B mRNA in Nasopharyngeal Swab Samples Increase Yields of Wilson Disease Molecular Genetic Diagnostics.Lenka Steiner Mrázová, Alena Vrbacká, Filip Majer
|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
