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Population Characteristics of the Spectrum and Frequencies of CFTR Gene Mutations in Patients with Cystic Fibrosis from the Republic of Bashkortostan (Russia)
Ayupova, Guzel, Litvinov, Sergey, Akhmetova, Vita, Minniakhmetov, Ildar, Mokrysheva, Natalia, Khusainova, Rita (2024)
. In particular it is possible to choose certain test kits for quick and effective genetic screening before use
Decreased TREC and KREC levels in newborns with trisomy 21
Marakhonov, Andrey, Mukhina, Anna, Vlasova, Elena, Efimova, Irina, Balinova, Natalya, Rodina, Yulia, Pershin, Dmitry, Markova, Zhanna, Minzhenkova, Marina, Shilova, Nadezhda, Mudaeva, Dzhaina, Saydaeva, Djamila, Irbaieva, Taisiya, Matulevich, Svetlana, Belyashova, Elena, Yakubovskiy, Grigoriy, Tebieva, Inna, Gabisova, Yulia, Ikaev, Murat, Irinina, Nataliya, Nurgalieva, Liya, Saifullina, Elena, Belyaeva, Tatiana, Romanova, Olga, Voronin, Sergey, Zinchenko, Rena, Shcherbina, Anna, Kutsev, Sergey (2024)
Newborn screening (NBS) for severe combined immunodeficiency (SCID) has been widely implemented
Наследственные формы злокачественных новообразований молочных желез: прогноз, скрининг и профилактика. Обзор литературы
Hereditary forms of breast malignant neoplasms: prognosis, screening and prevention. A review
Sultanbaev, Alexander V., Kolyadina, Irina V., Gilyazova, Irina R., Nasretdinov, Ainur F., Musin, Shamil I., Sultanbaeva, Nadezda I., Menshikov, Konstantin V., Султанбаев, А.В., Колядина, И.В., Гилязова, И.Р., Насретдинов, А.Ф., Мусин, Ш.И., Султанбаева, Н.И., Меньшиков, К.В. (2024)
primary prevention, screening, and treatment approaches. Primary prevention (removal of target organs
Newborn Screening for Severe T and B Cell Lymphopenia Using TREC/KREC Detection: A Large-Scale Pilot Study of 202,908 Newborns
Marakhonov, Andrey V., Efimova, Irina Yu, Mukhina, Anna A., Zinchenko, Rena A., Balinova, Natalya V., Rodina, Yulia, Pershin, Dmitry., Ryzhkova, Oxana P., Orlova, Anna A., Zabnenkova, Viktoriia V., Cherevatova, Tatiana B., Beskorovainaya, Tatiana S., Shchagina, Olga A., Polyakov, Alexander V., Markova, Zhanna G., Minzhenkova, Marina E., Shilova, Nadezhda V., Larin, Sergey S., Khadzhieva, Maryam B., Dudina, Ekaterina S., Kalinina, Ekaterina V., Mudaeva, Dzhaina A., Saydaeva, Djamila H., Matulevich, Svetlana A., Belyashova, Elena Yu ., Yakubovskiy, Grigoriy I., Tebieva, Inna S., Gabisova, Yulia V., Irinina, Nataliya A., Nurgalieva, Liya R., Saifullina, Elena V., Belyaeva, Tatiana I., Romanova, Olga S., Voronin, Sergey V., Shcherbina, Anna, Kutsev, Sergey I. (2024)
Newborn screening (NBS) for severe inborn errors of immunity (IEI), affecting T lymphocytes
Rare Variants of the SMN1 Gene Detected during Neonatal Screening
Akhkiamova, Maria, Polyakov, Aleksander, Marakhonov, Andrey, Voronin, Sergey, Saifullina, Elena, Vafina, Zulfiia, Michalchuk, Kristina, Braslavskaya, Svetlana, Chukhrova, Alena, Ryadninskaya, Nina, Kutsev, Sergey, Shchagina, Olga (2024)
During the expanded neonatal screening program conducted in 2023, we analyzed samples obtained from
Скрининг рака молочной железы у носителей герминальных мутаций. Обзор литературы
Breast cancer screening in germline mutation carriers. A literature review
Sultanbaev, A.V., Nasretdinov, A.F., Galeev, M.G., Menshikov, K.V., Musin, Sh.I., Sultanbaeva, N.I., Ayupov, R.T., Rakhimov, R.R., Lipatov, O.N., Izmaylov, A.A., Menshikova, I.A., Serebrennikov, G.A., Lipatov, D.O., Султанбаев, А.В., Насретдинов, А.Ф., Галеев, М.Г., Меньшиков, К.В., Мусин, Ш.И., Султанбаева, Н.И., Аюпов, Р.Т., Рахимов, Р.Р., Липатов, О.Н., Измайлов, А.А., Меньшикова, И.А., Серебренников, Г.А., Липатов, Д.О. (2023)
Breast cancer screening in germline mutation carriers. A literature review
Antibacterial activity of noscapine analogs
Ivanenkov, Y.A., Yu. Filyaeva, K., Matniyazov, , R.T., Baymiev, A.K., Baymiev, A.K., Vladimirova, A.A., Yamidanov, R.S., Mavzyutov, A.R., Zileeva, Z.R., Zainullina, L.F., Vakhitova, J.V., Marina, V.I., Terentiev, V.A., Osterman, I.A., Kartsev, V.G., Bezrukov, D.S., Dontsova, O.A. (2021)
our pDualrep2 double-reporter High Throughput Screening (HTS) platform to identify a series
Cardamonin inhibits LPS-induced inflammatory responses and prevents acute lung injury by targeting myeloid differentiation factor 2
Yang, L., Luo, W., Zhang, Q, Hong, S., Wang, Y., Samorodov, A.V., Chattipakorn, N., Pavlov, V.N., Liang, G. (2021)
for the treatment of ALI. Hypothesis/Purpose: Anti-inflammatory screening from natural product bank may provide new
MOLECULAR AND BIOCHEMICAL STUDY OF GLUTARIC ACIDURIA TYPE 1 IN 49 RUSSIAN FAMILIES: NINE NOVEL MUTATIONS IN THE GCDH GENE
KURKINA, M.V., MIHAYLOVA, S.V., BAIDAKOVA, G.V., SAIFULLINA, E.V., KOROSTELEV, S.A., PYANKOV, D.V., KANIVETS, I.V., YUNIN, M.A., PECHATNIKOVA, N.L., ZAKHAROVA, E.YU (2020)
NEONATAL SCREENING
Bioinformatics Analysis Screening and Identification of Key Biomarkers and Drug Targets in Human Glioblastoma
Wang, Chunlei, Beylerli, Ozal, Gu, Yan, Xu, Shancai, Ji, Zhiyong, Ilyasova, Tatiana, Gareev, Ilgiz, Chekhonin, Vladimir (2024)
Bioinformatics Analysis Screening and Identification of Key Biomarkers and Drug Targets in Human

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