Mikhail Yurevich Skoblov

28PUBLICATIONS
101CO-AUTHORS
Medical virologyCancer geneticsMedical infection agents (incl. prions)Epigenetics (incl. genome methylation and epigenomics)Cardiology (incl. cardiovascular diseases)
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Publications (28)

|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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