Alexandra Yu Filatova
24PUBLICATIONS
79CO-AUTHORS
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Publications (24)
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|Aug 25, 2025
uAUG-creating variant in the LDLR gene causes mild Familial hypercholesterolemia.Alexandra Filatova, Petr Vasiluev, Evgeniya Osipova
|Jun 21, 2025
Splicing variants in DEPDC5-related epilepsies: From functional characterization to correction.Evgeniya Osipova, Igor Bychkov, Alexandra Filatova
|Apr 14, 2025
The Missing Piece of the Puzzle: Unveiling the Role of <i>PTPN11</i> Gene in Multiple Osteochondromas in a Large Cohort Study.Artem Borovikov, Nailya Galeeva, Andrey Marakhonov
|Mar 25, 2025
Assessing Splicing Variants in the PAX6 Gene: A Comprehensive Minigene Approach.Kseniya Davydenko, Alexandra Filatova, Mikhail Skoblov
|Feb 13, 2025
The Basis of Diversity in Laminopathy Phenotypes Caused by Variants in the Intron 8 Donor Splice Site of the <i>LMNA</i> Gene.Olga Shchagina, Leisan Gilazova, Alexandra Filatova
|Dec 10, 2024
Out-of-frame Translation Rescues a Loss-of-function Variant in a Novel TBCE Phenotype.Peter Sparber, Evgeniia Ulas, Alexandra Filatova
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Frequent Collaborators
18 joint publications
Mikhail Yu Skoblov
7 joint publications
Andrey V Marakhonov
5 joint publications
Peter Sparber
5 joint publications
Igor Bychkov
4 joint publications
Olga Shchagina
4 joint publications
Rena Zinchenko
3 joint publications
Vladimir Kenis
3 joint publications
Aysylu Murtazina
3 joint publications
Kseniya Davydenko
2 joint publications
Fedor Konovalov
