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

A cross-sectional observational study: assessment of cardiovascular damage in mucopolysaccharidoses mutation carriers

一项横断面观察研究：评估粘多糖贮积症突变携带者的心血管损伤

期刊:Cardiovascular Diagnosis and Therapy
影响因子:2.1
doi:10.21037/cdt-24-469
Nguyen, Thanh Luan; Semyachkina, Alla Nikolaevna; Voinova, Victoria Yurievna; Shkolnikova, Maria Alexandrovna; Luong, Tuan Anh; Le, Huu Khanh; Reznik, Elena Vladimirovna
发表日期：2026
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Marfanoid phenotype with intellectual disability associated with NKAP mutation: a case report

NKAP基因突变相关的伴有智力障碍的马凡氏表型：病例报告

期刊:Journal of Medical Case Reports
影响因子:0.8
doi:10.1186/s13256-026-05984-2
Semyachkina, Alla N; Nikolaeva, Ekaterina A; Gritsevskaya, Daria Iu; Voinova, Victoria Yu; Kuramagomedova, Rabiat G; Bochenkov, Sergei V; Groznova, Olga S; Parfenenko, Mariia A; Kalashnikova, Olga V; Isupova, Evgenia A
发表日期：2026
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The Contribution of Mast Cells to the Regulation of Elastic Fiber Tensometry in the Skin Dermis of Children with Marfan Syndrome.

肥大细胞对马凡氏综合征患儿皮肤真皮弹性纤维张力测定的调节作用

期刊:International Journal of Molecular Sciences
影响因子:4.9
doi:10.3390/ijms25179191
Atiakshin Dmitrii, Nikolaeva Ekaterina, Semyachkina Alla, Kostin Andrey, Volodkin Artem, Morozov Sergey, Ignatyuk Michael, Mikhaleva Liudmila, Demyashkin Grigory, Elieh-Ali-Komi Daniel, Buchwalow Igor, Tiemann Markus
细胞生物学
发表日期：2024
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Classification of Infiltrative Heart Diseases MORAL-STAGE System

浸润性心脏病的MORAL-STAGE分级系统

期刊:Clinical Medicine Insights-Cardiology
影响因子:3.3
doi:10.1177/11795468241249075
Reznik, Elena V; Nguyen, Thanh Luan; Semyachkina, Alla N; Shkolnikova, Maria A
心脏病
心血管
发表日期：2024
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Epidemiology and Genetics of Mucopolysaccharidosis Type VI in Russia

俄罗斯VI型粘多糖贮积症的流行病学和遗传学

期刊:Frontiers in Molecular Biosciences
影响因子:4
doi:10.3389/fmolb.2021.780184
Voskoboeva, Elena; Semyachkina, Alla; Miklyaev, Ochir; Gamzatova, Amina; Mikhaylova, Svetlana; Vashakmadze, Nato; Baydakova, Galina; Omzar, Olga; Pichkur, Natalia; Zakharova, Ekaterina; Kutsev, Sergey
发表日期：2021
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Analysis of long-term observations of the large group of Russian patients with Hunter syndrome (mucopolysaccharidosis type II)

对大量俄罗斯亨特综合征（II型粘多糖贮积症）患者进行长期观察的分析

期刊:BMC Medical Genomics
影响因子:2
doi:10.1186/s12920-021-00922-1
Semyachkina, Alla Nikolaevna; Voskoboeva, Elena Yurievna; Nikolaeva, Ekaterina Alexandrovna; Zakharova, Ekaterina Yurievna
发表日期：2021
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Ehlers-Danlos syndrome kyphoscoliotic type 2 caused by mutations in the FKBP14 gene: an analysis of five cases

由FKBP14基因突变引起的埃勒斯-当洛斯综合征脊柱侧弯2型：5例病例分析

期刊:F1000Research
影响因子:
doi:10.12688/f1000research.52268.1
Semyachkina, Alla Nikolaevna; Nikolaeva, Ekaterina Alexandrovna; Galeeva, Nailya Mansurovna; Polyakov, Alexander Vladimirovich; Kurnikova, Maria Andreevna; Belova, Vera Аlexandrovna; Shulyakova, Irina Valerievna; Dantsev, Ilya Sergeevich; Dzhivanshiryan, Goar Vladimirovna
发表日期：2021
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Homocystinuria due to cystathionine beta-synthase (CBS) deficiency in Russia: Molecular and clinical characterization

俄罗斯胱硫醚β-合成酶（CBS）缺乏引起的同型半胱氨酸尿症：分子和临床特征

期刊:Molecular Genetics and Metabolism Reports
影响因子:1.9
doi:10.1016/j.ymgmr.2017.11.001
Voskoboeva, Elena; Semyachkina, Alla; Yablonskaya, Maria; Nikolaeva, Ekaterina
CBS
发表日期：2018
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Immune tolerance induction for laronidase treatment in mucopolysaccharidosis I

免疫耐受诱导用于粘多糖贮积症 I 型的拉罗尼酶治疗

期刊:Molecular Genetics and Metabolism Reports
影响因子:1.9
doi:10.1016/j.ymgmr.2017.01.004
Giugliani, Roberto; Vieira, Taiane Alves; Carvalho, Clarissa Gutierrez; Muñoz-Rojas, Maria-Veronica; Semyachkina, Alla N; Voinova, Victoria Y; Richards, Susan; Cox, Gerald F; Xue, Yong
免疫/内分泌
发表日期：2017
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