日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Exploring the clinical and genetic spectrum of Steel syndrome: two case reports and review of the literature

探索斯蒂尔综合征的临床和遗传谱:两例病例报告及文献综述

Gorodilova, Daria; Kenis, Vladimir; Rustamov, Khushnud; Akimova, Daria; Skoblov, Mikhail; Merkuryeva, Elena; Morgul, Anna; Grigorieva, Alyona; Andreeva, Liliia; Zabnenkova, Victoria; Bulakh, Maria; Chistol, Denis; Raimkhodjaeva, Nasibakhon; Lavrov, Alexander; Hegay, Tatyana; Aripova, Tamara; Kutsev, Sergey; Markova, Tatiana

A Spectrum of Pathogenic Variants in the LAMA2 Gene in the Russian Federation

俄罗斯联邦LAMA2基因致病变异谱

Chausova, Polina; Cherevatova, Tatiana; Dadali, Elena; Murtazina, Aysylu; Bulakh, Maria; Kurbatov, Sergei; Anisimova, Inga; Kanivets, Ilya; Udalova, Vasilisa; Rudenskaya, Galina; Demina, Nina; Sharkova, Inna; Monakhova, Anastasia; Tsygankova, Polina; Markova, Tatiana; Ryzhkova, Oksana; Shatohina, Olga; Galkina, Varvara; Borovikov, Artem; Mishina, Irina; Shchagina, Olga; Chukhrova, Alena; Polyakov, Aleksander

The Basis of Diversity in Laminopathy Phenotypes Caused by Variants in the Intron 8 Donor Splice Site of the LMNA Gene

LMNA基因内含子8供体剪接位点变异导致层粘蛋白病表型多样性的基础

Shchagina, Olga; Gilazova, Leisan; Filatova, Alexandra; Vafina, Zulfiia; Murtazina, Aysylu; Chigvintceva, Polina; Kudryashova, Olga; Polyakov, Aleksander; Kutsev, Sergey; Bulakh, Maria; Skoblov, Mikhail

Beyond the Known: Expanding the Clinical and Genetic Spectrum of Rare RPL13-Related Spondyloepimetaphyseal Dysplasia

超越已知:拓展罕见RPL13相关脊椎骨骺干骺端发育不良的临床和遗传谱

Gorodilova, Daria; Dadali, Elena; Kenis, Vladimir; Melchenko, Evgenii; Akimova, Daria; Bulakh, Maria; Orlova, Anna; Orlova, Maria; Shatokhina, Olga; Melnik, Evgeniya; Baud'huin, Marc; Skoblov, Mikhail; Kutsev, Sergey; Markova, Tatiana

Heterogeneity of Primary Ciliary Dyskinesia Gene Variants: A Genetic Database Analysis in Russia

原发性纤毛运动障碍基因变异的异质性:俄罗斯基因数据库分析

Kondratyeva, Elena I; Avdeev, Sergey N; Kyian, Tatiana A; Ryzhkova, Oksana P; Melyanovskaya, Yuliya L; Zabnenkova, Victoria V; Bulakh, Maria V; Merzhoeva, Zamira M; Bukhonin, Artem V; Trushenko, Natalia V; Lavginova, Baina B; Zhukova, Daria O; Kutsev, Sergey I

Freight wagon body design with increased load capacity

货车车身设计,载货能力增强

Bulakh, Maryna

Improving the technical and operational characteristics of the railway carriage

提高铁路客车的技术和运行特性

Bulakh, Maryna

Investigation of Buckling and Failure in Thin-Walled Columns Fabricated from PLA and PETG Using FDM 3D Printing

利用FDM 3D打印技术研究PLA和PETG薄壁柱的屈曲和失效行为

Baranovskyi, Denys; Wysmulski, Pawel; Rozylo, Patryk; Debski, Hubert; Bulakh, Maryna; Kopyść, Marcin; Myamlin, Sergey

[Clinical and molecular genetic features of cases of Floating-Harbor syndrome]

【漂浮港综合征的临床和分子遗传学特征】

Makretskaya, N A; Ismagilova, O R; Shestopalova, E A; Sharova, M V; Levchenko, O A; Bolmasova, A V; Bulakh, M V; Zabnenkova, V V; Orlova, A A; Kolodkina, A A; Ryzhkova, O P; Poliakov, A V; Tiulpakov, A N

Application of Cold Plasma to Reduce the Roughness of the Working Surface of a Railway Car Center Plate

冷等离子体技术在降低铁路车辆中心板工作表面粗糙度方面的应用

Bulakh, Maryna