Mikhail Yurevich Skoblov
28PUBLICATIONS
101CO-AUTHORS
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Publications (28)
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|Jun 12, 2026
A Rare Clinical Presentation of Variegate Porphyria.|Dec 24, 2025
Karyotypic Profiling of Induced Pluripotent Stem Cells Derived from a Xeroderma Pigmentosum Group C Patient.Almaqdad Alsalloum, Natalia Mingaleva, Ekaterina Gornostal
|Aug 26, 2025
RNA Analysis Uncovers Pathogenic PARN Variant in Dyskeratosis Congenita.Daria Akimova, Natalia Semenova, Tatiana Cherevatova
|Aug 25, 2025
uAUG-creating variant in the LDLR gene causes mild Familial hypercholesterolemia.Alexandra Filatova, Petr Vasiluev, Evgeniya Osipova
|Jul 29, 2025
Beyond the Known: Expanding the Clinical and Genetic Spectrum of Rare RPL13-Related Spondyloepimetaphyseal Dysplasia.Daria Gorodilova, Elena Dadali, Vladimir Kenis
|Jun 21, 2025
Splicing variants in DEPDC5-related epilepsies: From functional characterization to correction.Evgeniya Osipova, Igor Bychkov, Alexandra Filatova
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Frequent Collaborators
18 joint publications
Alexandra Yu Filatova
6 joint publications
Peter Sparber
5 joint publications
Vladimir Kenis
5 joint publications
Igor Bychkov
5 joint publications
Andrey V Marakhonov
4 joint publications
Aysylu Murtazina
4 joint publications
Olga Shchagina
4 joint publications
Tatiana Markova
4 joint publications
Kseniya Davydenko
4 joint publications
Rena Zinchenko