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

First 2-year experience of nationwide newborn screening for severe forms of T and B cell immunodeficiency: 2.3 million newborns analyzed using TREC and KREC in Russia

俄罗斯全国新生儿严重T细胞和B细胞免疫缺陷筛查的首批两年经验:使用TREC和KREC对230万新生儿进行了分析

Marakhonov, Andrey; Mukhina, Anna; Efimova, Irina; Balinova, Natalia; Ampleeva, Maria; Bobreshova, Anastasia; Rodina, Yulia; Pershin, Dmitry; Zabnenkova, Viktoriia; Ryzhkova, Oxana; Markova, Zhanna; Shilova, Nadezhda; Zhanin, Ilya; Savostyanov, Kirill; Matulevich, Svetlana; Bilalov, Fanil; Koroteev, Alexander; Donnikov, Andrey; Trofimov, Dmitry; Bairova, Tatyana; Seitova, Gulnara; Mordanov, Sergei; Nikolaeva, Elena; Esmurzieva, Zareta; Skorobogatova, Elena; Olkhova, Lyudmila; Vakhonina, Larisa; Kostenko, Daria; Bronin, Gleb; Zimin, Sergey; Bykova, Tatiana; Balashov, Dmitry; Zinchenko, Rena; Grachev, Nikolai; Voronin, Sergey; Shcherbina, Anna; Kutsev, Sergey

Two Years of Expanded Newborn Screening in Russia: High-Throughput Detection of Inherited Metabolic Disorders by Tandem Mass Spectrometry with Next-Generation Sequencing Confirmation

俄罗斯新生儿筛查扩大化两年:利用串联质谱高通量检测遗传代谢疾病并进行新一代测序确认

Zakharova, Ekaterina Y; Baydakova, Galina V; Baranova, Polina V; Aleksandrova, Darya Y; Shchagina, Olga A; Itkis, Yulia S; Milovanova, Natalya V; Nagornova, Tatyana S; Ivanova, Olga N; Nazarenko, Yana D; Voronin, Sergey V; Chukhrova, Alena L; Kadnikova, Varvara A; Lotnik, Ekaterina E; Ryadninskaya, Nina V; Polyakov, Aleksander V; Savostyanov, Kirill V; Bilalov, Fanil S; Koroteev, Alexander L; Trofimov, Dmitry Y; Bairova, Tatyana A; Seitova, Gulnara N; Mordanov, Sergei V; Matulevich, Svetlana A; Nikolaeva, Elena B; Kutsev, Sergey I

Gut dysbiosis narrative in psoriasis: matched-pair approach identifies only subtle shifts correlated with elevated fecal calprotectin

银屑病肠道菌群失调的叙述:配对样本方法仅能识别与粪便钙卫蛋白升高相关的细微变化

Yunusbayev, Bayazit; Bogdanova, Anna; Nadyrchenko, Nadezhda; Danilov, Lavrentii; Bogdanov, Viktor; Sergeev, Grigory; Altinbaev, Radick; Bilalov, Fanil; Yunusbaeva, Milyausha

Genotype Structure Alterations in 5q SMA Patients as a Result of the Newborn Screening Program Implementation in the Russian Federation

俄罗斯联邦新生儿筛查项目实施后,5q脊髓性肌萎缩症患者的基因型结构发生改变

Akhkiamova, Maria A; Marakhonov, Andrey V; Zabnenkova, Victoria V; Mikhalchuk, Kristina A; Voronin, Sergei V; Kutsev, Sergey I; Musatova, Victoria V; Kekeeva, Tatyana N; Ryadninskaya, Nina V; Chukhrova, Alena L; Braslavskaya, Svetlana I; Chausova, Polina A; Beskorovainaya, Tatyana S; Polyakov, Aleksander V; Savostyanov, Kirill V; Zhanin, Ilya S; Bilalov, Fanil S; Koroteev, Alexander L; Trofimov, Dmitry Y; Bairova, Tatyana A; Seitova, Gulnara N; Mordanov, Sergei V; Matulevich, Svetlana A; Nikolaeva, Elena B; Shchagina, Olga A

Excess fermentation and lactic acidosis as detrimental functions of the gut microbes in treatment-naive TB patients

肠道微生物过度发酵和乳酸性酸中毒是未经治疗的结核病患者的有害功能

Yunusbaeva, Milyausha; Borodina, Liliya; Terentyeva, Darya; Bogdanova, Anna; Zakirova, Aigul; Bulatov, Shamil; Altinbaev, Radick; Bilalov, Fanil; Yunusbayev, Bayazit

Untapped Potential of Poly(ADP-Ribose) Polymerase Inhibitors: Lessons Learned From the Real-World Clinical Homologous Recombination Repair Mutation Testing

聚(ADP-核糖)聚合酶抑制剂的未开发潜力:从真实世界临床同源重组修复突变检测中汲取的经验教训

Lebedeva, Alexandra; Veselovsky, Egor; Kavun, Alexandra; Belova, Ekaterina; Grigoreva, Tatiana; Orlov, Pavel; Subbotovskaya, Anna; Shipunov, Maksim; Mashkov, Oleg; Bilalov, Fanil; Shatalov, Peter; Kaprin, Andrey; Shegai, Peter; Diuzhev, Zhan; Migiaev, Ochir; Vytnova, Natalya; Mileyko, Vladislav; Ivanov, Maxim

Development of an Optimal Model of Combined Radiation and Biological Lesions

建立放射线与生物损伤联合作用的最佳模型

Gaynutdinov, Timur R; Vagin, Konstantin N; Kurbangaleev, Yagafar M; Ushmukhametov, Kamil T; Kalimullin, Farit Kh; Guryanova, Vanentina A; Yunusov, Ilnar R; Frolov, Aleksey V; Vafin, Fanil R

Psoriasis patients demonstrate HLA-Cw*06:02 allele dosage-dependent T cell proliferation when treated with hair follicle-derived keratin 17 protein

银屑病患者在接受毛囊来源的角蛋白17治疗时,表现出HLA-Cw*06:02等位基因剂量依赖性的T细胞增殖。

Yunusbaeva, Milyausha; Valiev, Ruslan; Bilalov, Fanil; Sultanova, Zilya; Sharipova, Leyla; Yunusbayev, Bayazit