Filip Majer

ResearcherID Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2020-2021
Publications (10 Years): 3

Top Topics

Optical Coherence Tomography

Protein Protein

Top Venues

Molecular genetics & genomic medicine

Acta ophthalmologica

1st Faculty of Medicine, Charles University

This page only lists publications with an associated author ORCID identifier.

Affiliation History

1st Faculty of Medicine, Charles University

Czechia

Faculty :: Institute of Inherited Metabolic Disorders

Publications

Filip Majer, Jakub Sikora
Easy and fast PCR-based protocol allows characterization of breakpoints resulting from Alu/Alu-mediated genomic rearrangements. Molecular genetics & genomic medicine (2021)
Ivana Jedličková, Anna Přistoupilová, Lenka Nosková, Filip Majer, Viktor Stránecký, Hana Hartmannová, Kateřina Hodaňová, Helena Trešlová, Michaela Hýblová, Peter Solár, Gabriel Minárik, Mária Giertlová, Stanislav Kmoch
Spinal muscular atrophy caused by a novel Alu-mediated deletion of exons 2a-5 in SMN1 undetectable with routine genetic testing. Molecular genetics & genomic medicine 8 (7) (2020)
Bohdan Kousal, Filip Majer, Hana Vlaskova, Lenka Dvorakova, Lenka Piherová, Martin Meliska, Hana Langrová, Tomas Palecek, Milos Kubanek, Alice Krebsova, Jiri Gurka, Veronika Stara, Michel Michaelides, Tomáš Kalina, Jakub Sikora, Petra Liskova
Pigmentary retinopathy can indicate the presence of pathogenic LAMP2 variants even in somatic mosaic carriers with no additional signs of Danon disease. Acta ophthalmologica 99 (1) (2020)