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46,XY,r(8)/45,XY,−8 Mosaicism as a Possible Mechanism of the Imprinted Birk-Barel Syndrome: A Case Study by Anna A. Kashevarova, Tatyana V. Nikitina, Larisa I. Mikhailik, Elena O. Belyaeva, Stanislav A. Vasilyev, Mariya E. Lopatkina, Dmitry A. Fedotov, Elizaveta A. Fonova, Aleksei A. Zarubin, Aleksei A. Sivtsev, Nikolay A. Skryabin, Lyudmila P. Nazarenko, Igor N. Lebedev

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Calling and Phasing of Single-Nucleotide and Structural Variants of the <i>LDLR</i> Gene Using Oxford Nanopore MinION by Maria S. Nazarenko, Aleksei A. Sleptcov, Aleksei A. Zarubin, Ramil R. Salakhov, Alexander I. Shevchenko, Narek A. Tmoyan, Eugeny A. Elisaphenko, Ekaterina S. Zubkova, Nina V. Zheltysheva, Marat V. Ezhov, Valery V. Kukharchuk, Yelena V. Parfyonova, Suren M. Zakian, Irina S. Zakharova

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iPSC-Derived Endothelial Cells Reveal LDLR Dysfunction and Dysregulated Gene Expression Profiles in Familial Hypercholesterolemia by Irina S. Zakharova, Alexander I. Shevchenko, Mhd Amin Arssan, Aleksei A. Sleptcov, Maria S. Nazarenko, Aleksei A. Zarubin, Nina V. Zheltysheva, Vlada A. Shevchenko, Narek A. Tmoyan, Shoraan B. Saaya, Marat V. Ezhov, Valery V. Kukharchuk, Yelena V. Parfyonova, Suren M. Zakian

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