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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.
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.
Afiliación
  • Sotnikova EA; National Medical Research Center for Therapy and Preventive Medicine, Ministry of Healthcare of the Russian Federation, Petroverigsky per.10, Bld. 3, 101000 Moscow, Russia.
  • Kiseleva AV; National Medical Research Center for Therapy and Preventive Medicine, Ministry of Healthcare of the Russian Federation, Petroverigsky per.10, Bld. 3, 101000 Moscow, Russia.
  • Kutsenko VA; National Medical Research Center for Therapy and Preventive Medicine, Ministry of Healthcare of the Russian Federation, Petroverigsky per.10, Bld. 3, 101000 Moscow, Russia.
  • Zharikova AA; Faculty of Mechanics and Mathematics, Lomonosov Moscow State University, 1-73, Leninskie Gory, 119991 Moscow, Russia.
  • Ramensky VE; National Medical Research Center for Therapy and Preventive Medicine, Ministry of Healthcare of the Russian Federation, Petroverigsky per.10, Bld. 3, 101000 Moscow, Russia.
  • Divashuk MG; Faculty of Bioengineering and Bioinformatics, Lomonosov Moscow State University, 1-73, Leninskie Gory, 119991 Moscow, Russia.
  • Vyatkin YV; National Medical Research Center for Therapy and Preventive Medicine, Ministry of Healthcare of the Russian Federation, Petroverigsky per.10, Bld. 3, 101000 Moscow, Russia.
  • Klimushina MV; Faculty of Bioengineering and Bioinformatics, Lomonosov Moscow State University, 1-73, Leninskie Gory, 119991 Moscow, Russia.
  • Ershova AI; National Medical Research Center for Therapy and Preventive Medicine, Ministry of Healthcare of the Russian Federation, Petroverigsky per.10, Bld. 3, 101000 Moscow, Russia.
  • Revazyan KZ; All-Russia Research Institute of Agricultural Biotechnology, Timiryazevskaya Street, 42, 127550 Moscow, Russia.
  • Skirko OP; National Medical Research Center for Therapy and Preventive Medicine, Ministry of Healthcare of the Russian Federation, Petroverigsky per.10, Bld. 3, 101000 Moscow, Russia.
  • Zaicenoka M; Novosibirsk State University, 1, Pirogova Str., 630090 Novosibirsk, Russia.
  • Efimova IA; National Medical Research Center for Therapy and Preventive Medicine, Ministry of Healthcare of the Russian Federation, Petroverigsky per.10, Bld. 3, 101000 Moscow, Russia.
  • Pokrovskaya MS; National Medical Research Center for Therapy and Preventive Medicine, Ministry of Healthcare of the Russian Federation, Petroverigsky per.10, Bld. 3, 101000 Moscow, Russia.
  • Kopylova OV; National Medical Research Center for Therapy and Preventive Medicine, Ministry of Healthcare of the Russian Federation, Petroverigsky per.10, Bld. 3, 101000 Moscow, Russia.
  • Glechan AM; National Medical Research Center for Therapy and Preventive Medicine, Ministry of Healthcare of the Russian Federation, Petroverigsky per.10, Bld. 3, 101000 Moscow, Russia.
  • Shalnova SA; Moscow Institute of Physics and Technology, Dolgoprudny, Institutskiy per.9, 141701 Dolgoprudny, Russia.
  • Meshkov AN; National Medical Research Center for Therapy and Preventive Medicine, Ministry of Healthcare of the Russian Federation, Petroverigsky per.10, Bld. 3, 101000 Moscow, Russia.
  • Drapkina OM; National Medical Research Center for Therapy and Preventive Medicine, Ministry of Healthcare of the Russian Federation, Petroverigsky per.10, Bld. 3, 101000 Moscow, Russia.
J Pers Med ; 12(7)2022 Jul 12.
Article en En | MEDLINE | ID: mdl-35887629
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Diagnostic_studies / Screening_studies Idioma: En Revista: J Pers Med Año: 2022 Tipo del documento: Article País de afiliación: Rusia Pais de publicación: Suiza
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Diagnostic_studies / Screening_studies Idioma: En Revista: J Pers Med Año: 2022 Tipo del documento: Article País de afiliación: Rusia Pais de publicación: Suiza