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ЗНАЧЕНИЕ МИТОХОНДРИЙ В ПАТОГЕНЕЗЕ ЗАБОЛЕВАНИЙ
THE IMPORTANCE OF MITOCHONDRIA IN DISEASE PATHOGENESIS
Салиева, А.И., Salieva, A.I. (2024)
mutations
Osteogenesis Imperfecta: Search for Mutations in Patients from the Republic of Bashkortostan (Russia)
Nadyrshina, D., Zaripova, A., Tyurin, A., Minniakhmetov, I., Zakharova, E., Khusainova, R. (2022)
in patients from Bashkortostan Republic, Russia. In total, 16 mutations in COL1A1, 11 mutations in COL1A2
Whole Exome Sequencing Study Suggests an Impact of FANCA, CDH1 and VEGFA Genes on Diffuse Gastric Cancer Development
Nurgalieva, A., Galliamova, L., Ekomasova, N., Yankina, M., Sakaeva, D., Valiev, R., Prokofyeva, D., Dzhaubermezov, M., Fedorova, Y., Khusnutdinov, S., Khusnutdinova, E. (2023)
germline mutations
Роль мутаций в гене NF1 в спорадическом канцерогенезе
The role of mutations in NF1 gene in sporadic carcinogenesis
Мустафин, Р. Н., Mustafin, R.N. (2021)
and specific types of sporadic neoplasms, in which mutations in NF1 gene are found, are presented. Evidence
РЕНТГЕНОЛОГИЧЕСКАЯ ПЛОТНОСТЬ МОЛОЧНЫХ ЖЕЛЕЗ КАК ФАКТОР РИСКА РАЗВИТИЯ РАКА МОЛОЧНОЙ ЖЕЛЕЗЫ
MAMMOGRAPHIC DENSITY AS A BREAST CANCER RISK FACTOR
Н. А. Захарова, N. A. Zakharova (Креативная хирургия и онкология, №4, 2017)
CLINICAL AND EPIDEMIOLOGICAL CHARACTERISTICS OF HEREDITARY MOTOR-SENSORY NEUROPATHY 1X CAUSED BY THE MUTATION C. 259C> G (P. P87A) IN THE GJB1 GENE OF PATIENTS FROM THE REPUBLIC OF BASHKORTOSTAN
Saifullina, E.V., Magzhanov, R.V., Khidiyatova, I.M., Khusnutdinova, E.K. (2017)
-sensory neuropathies caused by mutations in the GJB1 gene (gap junction B1 type). The authors have established earlier
МАЖОРНАЯ МУТАЦИЯ В ГЕНЕ SPAST У ПАЦИЕНТОВ С АУТОСОМНО-ДОМИНАНТНОЙ СПАСТИЧЕСКОЙ ПАРАПЛЕГИЕЙ ИЗ РЕСПУБЛИКИ БАШКОРТОСТАН
MAJOR MUTATION IN THE SPAST GENE IN PATIENTS WITH AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA FROM THE REPUBLIC OF BASHKORTOSTAN
KHIDIYATOVA, I.M., AKHMETGALEYEVA, A.F., YANKINA, M.A., KHUSNUTDINOVA, E.K., SHAVALIEVA, V.V., SAIFULLINA, E.V., MAGZHANOV, R.V., IDRISOVA, R.F., ХИДИЯТОВА И.М., АХМЕТГАЛЕЕВА А.Ф., САЙФУЛЛИНА Е.В., ИДРИСОВА Р.Ф., ЯНКИНА М.А., ШАВАЛИЕВА В.В., МАГЖАНОВ Р.В., ХУСНУТДИНОВА Э.К. (2019)
lesion of the pyramidal tract. To date, mutations responsible for the disease have been identified
СОВРЕМЕННЫЕ СВЕДЕНИЯ О ГЕНЕТИЧЕСКОЙ НЕОДНОРОДНОСТИ ВРОЖДЕННЫХ КАТАРАКТ
CURRENT INFORMATION ON GENETIC HETEROGENEITY OF CONGENITAL CATARACTS
Корсакова, Н.В., Белкова, Т.А., Korsakova, N.V., Belkova, T.A. (2020)
mutation
Heterozygous de novo dominant negative mutation of REXO2 results in interferonopathy
Idiiatullina, Elina, Al-Azab, Mahmoud, Lin, Meng, Hrovat-Schaale, Katja, Liu, Ziyang, Li, Xiaotian, Guo, Caiqin, Chen, Xixi, Li, Yaoying, Gao, Song, Cui, Jun, Zhou, Wenhao, Liu, Li, Zhang, Yuxia, Masters, Seth L. (2024)
, and autoinflammatory disease due to type I IFN. Here, we show that a dominant negative mutation in the gene encoding
Single nucleotide polymorphism rs527236194 of the cytochrome B gene (MT-CYB) is associated with alterations in sperm parameters
Gromenko, Yulia Yu., Galimov, Kamil S., Gilyazova, Irina R., Galimova, Elmira F., Bulygin, Kirill V., Ryagin, Sergey N., Galimov, Shamil N., Litvitskiy, Peter F., Piavchenko, Gennadii A., Pavlov, Valentin N. (2023)
Background: The mitochondrial genome is substantially susceptible to mutations and has high

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