Просмотр коллекции по группе - По тематике SINGLE NUCLEOTIDE POLYMORPHISM
Отображение результатов 1 до 5 из 5
Дата публикации | Название | Авторы |
2020 | A case report of dopa-responsive dystonia in a young woman | Belykh, N. A.; Akhkyamova, M. A.; Gusev, V. V.; Lvova, O. A. |
2022 | In Silico Analysis Revealed Five Novel High-Risk Single-Nucleotide Polymorphisms (rs200384291, rs201163886, rs193141883, rs201139487, and rs201723157) in ELANE Gene Causing Autosomal Dominant Severe Congenital Neutropenia 1 and Cyclic Hematopoiesis | Shinwari, K.; Bolkov, M. A.; Yasir Akbar, M.; Guojun, L.; Deryabina, S. S.; Tuzankina, I. A.; Chereshnev, V. A. |
2023 | In-silico assessment of high-risk non-synonymous SNPs in ADAMTS3 gene associated with Hennekam syndrome and their impact on protein stability and function | Shinwari, K.; Wu, Y.; Rehman, H. M.; Xiao, N.; Bolkov, M.; Tuzankina, I.; Chereshnev, V. |
2023 | Novel high-risk missense mutations identification in FAT4 gene causing Hennekam syndrome and Van Maldergem syndrome 2 through molecular dynamics simulation | Shinwari, K.; Rehman, H. M.; Xiao, N.; Guojun, L.; Khan, M. A.; Bolkov, M. A.; Tuzankina, I. A.; Chereshnev, V. A. |
2021 | Predicting the Most Deleterious Missense Nonsynonymous Single-Nucleotide Polymorphisms of Hennekam Syndrome-Causing CCBE1 Gene, in Silico Analysis | Shinwari, K.; Guojun, L.; Deryabina, S. S.; Bolkov, M. A.; Tuzankina, I. A.; Chereshnev, V. A. |