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International Journal of Molecular Sciences|May 27, 2026
Mutation Spectrum of ADAMTS13 Gene in Patients with Upshaw-Schulman Syndrome (USS) in RussiaJulia Poznyakova, Olesya Pshenichnikova, Elizaveta Klebanova, et al.
Clinical and Experimental Pharmacology & Physiology|June 28, 2022
New missense mutation p.Trp387Ser affecting the functionally important TrpXXTrp motif in the TSR1 repeat of ADAMTS13 metalloproteinase: Case reportJulia Poznyakova, Olesya Pshenichnikova, Vadim Surin, et al.
Clinical Genetics|May 3, 2019
Molecular genetic study of acute intermittent porphyria in Russia: HMBS gene mutation spectrum and problem of penetranceMaria Goncharova, Olesya Pshenichnikova, Yulia Luchinina, et al.
Genes|September 28, 2023
Molecular Genetic Analysis of Russian Patients with Coagulation Factor FVII DeficiencyOlesya Pshenichnikova, Daria Selivanova, Ekaterina Shchemeleva, et al.
International Journal of Hematology|January 10, 2023
Factor XII deficiency: a clinical and molecular genetic studyEkaterina Demidova, Valentina Salomashkina, Olesya Pshenichnikova, et al.
International Journal of Molecular Sciences|December 30, 2025
A Rare Case of Mild Hemophilia A in a Female with Mosaic Monosomy X and a De Novo F8 VariantOlesya Pshenichnikova, Valentina Salomashkina, Olga Yastrubinetskaya, et al.
Molecular Genetics and Metabolism Reports|May 20, 2026
Somatic mosaicism in the δ-aminolevulinate dehydratase gene causing late-onset porphyria with erythroid-driven pathogenesisTimofei Vizerov, Nina Demina, Rodion Ponomarev, et al.
International Journal of Molecular Sciences|May 4, 2026
Genetic and Clinical Characteristics of Russian Patients with Congenital Factor V DeficiencyOlesya Pshenichnikova, Julia Poznyakova, Ekaterina Shchemeleva, et al.
Genes|February 25, 2023
Spectrum of Causative Mutations in Patients with Hemophilia A in RussiaOlesya Pshenichnikova, Valentina Salomashkina, Julia Poznyakova, et al.
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