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

Local Relaxation Phenomena in Epoxy Resins in the Temperature Range from -150 °C to +150 °C

环氧树脂在-150℃至+150℃温度范围内的局部弛豫现象

Lomovskoy, Viktor A; Trofimov, Dmitry A; Shatokhina, Svetlana A; Lomovskaya, Nadezhda Yu; Simonov-Emelyanov, Igor D

Novel variants associated with premature ovarian insufficiency in Russian adolescents

与俄罗斯青少年卵巢早衰相关的新型变异

Tsabai, Polina; Kumykova, Zaira; Averkova, Victoria; Pavlova, Nadezhda; Maslennikov, Dmitry; Bolshakova, Anna; Batyrova, Zalina; Kolpakova, Tamara; Bystritskiy, Andrey; Karetnikova, Natalia; Ekimov, Alexey; Goltsov, Andrey; Kuznetsova, Maria; Turchinets, Anna; Mukosey, Irina; Kochetkova, Taisiya; Sadelov, Igor; Shubina, Jekaterina; Uvarova, Elena; Yureneva, Svetlana; Trofimov, Dmitry; Sukhikh, Gennady

Cellular effects of splenectomy on liver regeneration after 70% resection.

脾切除术后70%肝脏切除对肝脏再生细胞的影响

Elchaninov Andrey, Vishnyakova Polina, Gantsova Elena, Chirkova Miroslava, Karyagina Victoria, Anatoliy Larkin, Kananykhina Evgeniya, Kuznetsova Maria, Atabekov Ibrahim, Karpulevich Evgeny, Denis Silachev, Trofimov Dmitry, Goldshtein Dmitry, Fatkhudinov Timur, Sukhikh Gennady

Novel STAG3 variant causes oligoasthenoteratozoospermia with high sperm aneuploidy rate

新型STAG3变异导致少弱畸精子症伴高精子非整倍体率

Tsabai, Polina N; Pavlova, Nadezhda S; Shatylko, Taras V; Kumykova, Zaira Kh; Stupko, Olga K; Kochetkova, Taisya O; Lobanova, Nataliia N; Goltsov, Andrey Yu; Leukhina, Olga O; Shubina, Jekaterina; Gamidov, Safar I; Uvarova, Elena V; Trofimov, Dmitry Yu

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

The underestimated role of major skin commensal Malassezia furfur in the development of neonatal invasive fungal infections

被低估的皮肤主要共生菌糠秕马拉色菌在新生儿侵袭性真菌感染发展中的作用

Priputnevich, Tatiana V; Gordeev, Alexey B; Shabanova, Natalia E; Denisov, Pavel; Trofimov, Dmitry Yu; Balashova, Ekaterina N; Donnikov, Andrey E; Yarotskaya, Ekaterina L; Zubkov, Viktor V; Sukhikh, Gennady T

Expanding phenotype of MED13-associated syndrome presenting novel de novo missense variant in a patient with multiple congenital anomalies.

MED13 相关综合征的表型不断扩大,在一名患有多种先天性异常的患者中发现了一种新的从头错义变异

Tolmacheva Ekaterina, Bolshakova Anna S, Shubina Jekaterina, Rogacheva Margarita S, Ekimov Alexey N, Podurovskaya Julia L, Burov Artem A, Rebrikov Denis V, Bychenko Vladimir G, Trofimov Dmitry Yu, Sukhikh Gennady T

Novel Approaches to Possible Targeted Therapies and Prophylaxis of Uterine Fibroids

子宫肌瘤靶向治疗和预防的新方法

Kuznetsova, Maria V; Tonoyan, Narine M; Trubnikova, Elena V; Zelensky, Dmitry V; Svirepova, Ksenia A; Adamyan, Leila V; Trofimov, Dmitry Y; Sukhikh, Gennady T