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

Pompe disease: a country-wide molecular screening in a cohort of 15,068 study participants

庞贝氏病:一项针对15068名研究参与者的全国性分子筛查

Pushkov, Aleksander; Chudakova, Daria; Zhanin, Ilya; Nikitin, Sergey; Basargina, Elena; Kuzenkova, Lydmila; Andreeva, Daria; Vasil'eva, Maria; Vasichkin, Sergey; Gabitova, Albina; Gaisina, Elena; Saifullina, Elena; Gamzatova, Amina; Gilvanova, Olga; Dudin, Vyacheslav; Ergina, Olga; Kurbatov, Sergey; Noskova, Elena; Osipova, Elena; Tihonova, Olga; Fedotova, Ekaterina; Nuzhny, Evgeny; Chernikova, Viktoria; Yamshchikova, Anastasia; Kyzina, Lubov; Irinina, Natalia; Rohlenko, Olga; Kutkova, Yulia; Popkova, Natalia; Ahunova, Alsy; Alexeeva, Alina; Mazanova, Natalia; Sdvigova, Nataliya; Gandaeva, Leyla; Zharova, Olga; Podkletnova, Tatyana; Sukhozhenko, Alexey; Rusakova, Anastasia; Demianov, Dmitry; Pakhomov, Aleksandr; Fisenko, Andrey; Savostyanov, Kirill

Genotype-Phenotype Correlations in 293 Russian Patients with Causal Fabry Disease Variants

293 名携带致病性法布里病变异的俄罗斯患者的基因型-表型相关性

Kirill Savostyanov, Alexander Pushkov, Ilya Zhanin, Natalya Mazanova, Alexander Pakhomov, Elena Trufanova, Alina Alexeeva, Dmitry Sladkov, Ludmila Kuzenkova, Aliy Asanov, Andrey Fisenko

The prevalence of Fabry disease among 1009 unrelated patients with hypertrophic cardiomyopathy: a Russian nationwide screening program using NGS technology

在1009名互不相关的肥厚型心肌病患者中,法布里病的患病率:一项采用NGS技术的俄罗斯全国性筛查项目

Savostyanov, K; Pushkov, A; Zhanin, I; Mazanova, N; Trufanov, S; Pakhomov, A; Alexeeva, A; Sladkov, D; Asanov, A; Fisenko, A

Vitamin D Auto-/Paracrine System Is Involved in Modulation of Glucocorticoid-Induced Changes in Angiogenesis/Bone Remodeling Coupling

维生素D自分泌/旁分泌系统参与调节糖皮质激素诱导的血管生成/骨重塑偶联变化

Lisakovska, Olha; Shymanskyi, Ihor; Labudzynskyi, Dmytro; Mazanova, Anna; Veliky, Mykola

Effects of Cholecalciferol on Key Components of Vitamin D-Endo/Para/Autocrine System in Experimental Type 1 Diabetes

胆钙化醇对实验性1型糖尿病中维生素D内分泌/旁分泌/自分泌系统关键成分的影响

Mazanova, Anna; Shymanskyi, Ihor; Lisakovska, Olha; Hajiyeva, Lala; Komisarenko, Yulia; Veliky, Mykola