المؤلفون: Akimova, Daria, Markova, Tatiana, Ampleeva, Maria, Skoblov, Mikhail

المساهمون: Ministry of Science and Higher Education of the Russian Federation

المصدر: Frontiers in Genetics ; volume 14 ; ISSN 1664-8021

مصطلحات موضوعية: Genetics (clinical), Genetics, Molecular Medicine

الإتاحة: https://doi.org/10.3389/fgene.2023.1303807Test

المؤلفون: Sharova, Margarita, Skoblov, Mikhail, Dadali, Elena, Demina, Nina, Shchagina, Olga, Konovalov, Fedor, Ampleeva, Maria, Sharkova, Inna, Kutsev, Sergey

المساهمون: Ministry of Science and Higher Education of the Russian Federation

المصدر: Frontiers in Neurology ; volume 13 ; ISSN 1664-2295

مصطلحات موضوعية: Neurology (clinical), Neurology

الإتاحة: https://doi.org/10.3389/fneur.2022.1008937Test

المؤلفون: Semenova, Natalia, Marakhonov, Andrey, Ampleeva, Maria, Kurkina, Marina, Baydakova, Galina, Skoblov, Mikhail, Taran, Natalia, Babak, Olga, Shchukina, Ekaterina, Strokova, Tatyana

المصدر: International Journal of Molecular Sciences; Dec2022, Vol. 23 Issue 23, p15026, 5p

مصطلحات موضوعية: CARBONIC anhydrase, NEONATAL intensive care units, HYPERAMMONEMIA, GENETIC mutation, GENETIC disorders

مصطلحات جغرافية: RUSSIA

المؤلفون: Bychkov, Igor, Baydakova, Galina, Filatova, Alexandra, Migiaev, Ochir, Marakhonov, Andrey, Pechatnikova, Nataliya, Pomerantseva, Ekaterina, Konovalov, Fedor, Ampleeva, Maria, Kaimonov, Vladimir, Skoblov, Mikhail, Zakharova, Ekaterina

المصدر: International Journal of Molecular Sciences; Oct2021, Vol. 22 Issue 19, p10887, 1p

مصطلحات موضوعية: GLYCOGEN storage disease type II, MOBILE genetic elements, WHOLE genome sequencing, TRANSPOSONS, INTRONS, LYSOSOMAL storage diseases, FUNCTIONAL analysis, GENETIC mutation