Found: 7

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  • Identification of Pathogenic Variant Burden and Selection of Optimal Diagnostic Method Is a Way to Improve Carrier Screening for Autosomal Recessive Diseases.

    Published in:
    Journal of Personalized Medicine, 2022, v. 12, n. 7, p. 1132, doi. 10.3390/jpm12071132
    By:
    • Sotnikova, Evgeniia A.;
    • Kiseleva, Anna V.;
    • Kutsenko, Vladimir A.;
    • Zharikova, Anastasia A.;
    • Ramensky, Vasily E.;
    • Divashuk, Mikhail G.;
    • Vyatkin, Yuri V.;
    • Klimushina, Marina V.;
    • Ershova, Alexandra I.;
    • Revazyan, Karina Z.;
    • Skirko, Olga P.;
    • Zaicenoka, Marija;
    • Efimova, Irina A.;
    • Pokrovskaya, Maria S.;
    • Kopylova, Oksana V.;
    • Glechan, Anush M.;
    • Shalnova, Svetlana A.;
    • Meshkov, Alexey N.;
    • Drapkina, Oxana M.
    Publication type:
    Article

  • A Data-Driven Approach to Carrier Screening for Common Recessive Diseases.

    Published in:
    Journal of Personalized Medicine, 2020, v. 10, n. 3, p. 140, doi. 10.3390/jpm10030140
    By:
    • Kiseleva, Anna V.;
    • Klimushina, Marina V.;
    • Sotnikova, Evgeniia A.;
    • Divashuk, Mikhail G.;
    • Ershova, Alexandra I.;
    • Skirko, Olga P.;
    • Kurilova, Olga V.;
    • Zharikova, Anastasia A.;
    • Khlebus, Eleonora Yu.;
    • Efimova, Irina A.;
    • Pokrovskaya, Maria S.;
    • Slominsky, Petr A.;
    • Shalnova, Svetlana A.;
    • Meshkov, Alexey N.;
    • Drapkina, Oxana M.
    Publication type:
    Article

  • Targeted Sequencing of 242 Clinically Important Genes in the Russian Population From the Ivanovo Region.

    Published in:
    Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.709419
    By:
    • Ramensky, Vasily E.;
    • Ershova, Alexandra I.;
    • Zaicenoka, Marija;
    • Kiseleva, Anna V.;
    • Zharikova, Anastasia A.;
    • Vyatkin, Yuri V.;
    • Sotnikova, Evgeniia A.;
    • Efimova, Irina A.;
    • Divashuk, Mikhail G.;
    • Kurilova, Olga V.;
    • Skirko, Olga P.;
    • Muromtseva, Galina A.;
    • Belova, Olga A.;
    • Rachkova, Svetlana A.;
    • Pokrovskaya, Maria S.;
    • Shalnova, Svetlana A.;
    • Meshkov, Alexey N.;
    • Drapkina, Oxana M.
    Publication type:
    Article

  • The Double Mutation DSG2 -p.S363X and TBX20 -p.D278X Is Associated with Left Ventricular Non-Compaction Cardiomyopathy: Case Report.

    Published in:
    International Journal of Molecular Sciences, 2021, v. 22, n. 13, p. 6775, doi. 10.3390/ijms22136775
    By:
    • Myasnikov, Roman;
    • Brodehl, Andreas;
    • Meshkov, Alexey;
    • Kulikova, Olga;
    • Kiseleva, Anna;
    • Pohl, Greta Marie;
    • Sotnikova, Evgeniia;
    • Divashuk, Mikhail;
    • Klimushina, Marina;
    • Zharikova, Anastasia;
    • Pokrovskaya, Maria;
    • Koretskiy, Sergey;
    • Kharlap, Maria;
    • Mershina, Elena;
    • Sinitsyn, Valentin;
    • Basargina, Elena;
    • Gandaeva, Leila;
    • Barskiy, Vladimir;
    • Boytsov, Sergey;
    • Milting, Hendrik
    Publication type:
    Article

  • Cystic Fibrosis Polymorphic Variants in a Russian Population.

    Published in:
    Pharmacogenomics & Personalized Medicine, 2020, v. 13, p. 679, doi. 10.2147/PGPM.S278806
    By:
    • Kiseleva, Anna;
    • Klimushina, Marina;
    • Sotnikova, Evgeniia;
    • Skirko, Olga;
    • Divashuk, Mikhail;
    • Kurilova, Olga;
    • Ershova, Alexandra;
    • Khlebus, Eleonora;
    • Zharikova, Anastasia;
    • Efimova, Irina;
    • Pokrovskaya, Maria;
    • Slominsky, Petr A;
    • Shalnova, Svetlana;
    • Meshkov, Alexey;
    • Drapkina, Oxana
    Publication type:
    Article

  • The LDLR , APOB , and PCSK9 Variants of Index Patients with Familial Hypercholesterolemia in Russia.

    Published in:
    Genes, 2021, v. 12, n. 1, p. 66, doi. 10.3390/genes12010066
    By:
    • Meshkov, Alexey;
    • Ershova, Alexandra;
    • Kiseleva, Anna;
    • Zotova, Evgenia;
    • Sotnikova, Evgeniia;
    • Petukhova, Anna;
    • Zharikova, Anastasia;
    • Malyshev, Pavel;
    • Rozhkova, Tatyana;
    • Blokhina, Anastasia;
    • Limonova, Alena;
    • Ramensky, Vasily;
    • Divashuk, Mikhail;
    • Khasanova, Zukhra;
    • Bukaeva, Anna;
    • Kurilova, Olga;
    • Skirko, Olga;
    • Pokrovskaya, Maria;
    • Mikova, Valeriya;
    • Snigir, Ekaterina
    Publication type:
    Article

  • Identification of Novel Candidate Markers of Type 2 Diabetes and Obesity in Russia by Exome Sequencing with a Limited Sample Size.

    Published in:
    Genes, 2018, v. 9, n. 8, p. 415, doi. 10.3390/genes9080415
    By:
    • Polev, Dmitrii E.;
    • Shuvalova, Anna R.;
    • Barbitoff, Yury A.;
    • Glotov, Andrey S.;
    • Nasykhova, Yulia A.;
    • Serebryakova, Elena A.;
    • Predeus, Alexander V.;
    • Glotov, Oleg S.;
    • Sarana, Andrey M.;
    • Scherbak, Sergey G.;
    • Vasiliev, Evgenii V.;
    • Urazov, Stanislav P.;
    • Gladyshev, Dmitrii V.;
    • Pokrovskaya, Maria S.;
    • Sivakova, Oksana V.;
    • Meshkov, Aleksey N.;
    • Drapkina, Oxana M.
    Publication type:
    Article