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

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

Establishment of a Pilot Newborn Screening Program for Spinal Muscular Atrophy in Saint Petersburg

在圣彼得堡建立脊髓性肌萎缩症新生儿筛查试点项目

Kiselev, Anton; Maretina, Marianna; Shtykalova, Sofia; Al-Hilal, Haya; Maslyanyuk, Natalia; Plokhih, Mariya; Serebryakova, Elena; Frolova, Marina; Shved, Natalia; Krylova, Nadezhda; Il'ina, Arina; Freund, Svetlana; Osinovskaya, Natalia; Sultanov, Iskender; Egorova, Anna; Lobenskaya, Anastasia; Koroteev, Alexander; Sosnina, Irina; Gorelik, Yulia; Bespalova, Olesya; Baranov, Vladislav; Kogan, Igor; Glotov, Andrey

Quantum-Size Effects in Ultra-Thin Gold Films on Pt(111) Surface

Pt(111)表面上超薄金膜的量子尺寸效应

Koroteev, Yury M; Silkin, Igor V; Silkin, Vyacheslav M; Chulkov, Evgueni V

Description of the First Registered Case of Lopes-Maciel-Rodan Syndrome in Russia

俄罗斯首例登记在册的洛佩斯-马西埃尔-罗丹综合征病例描述

Koshevaya, Yuliya S; Kusakin, Aleksey V; Buchinskaia, Natalia V; Pechnikova, Valentina V; Serebryakova, Elena A; Koroteev, Alexander L; Glotov, Andrey S; Glotov, Oleg S

Mononuclear Transition Metal Cymantrenecarboxylates as Precursors for Spinel-Type Manganites

单核过渡金属氰基甲烯羧酸盐作为尖晶石型锰酸盐的前体

Koroteev, Pavel S; Ilyukhin, Andrey B; Gavrikov, Andrey V; Babeshkin, Konstantin A; Efimov, Nikolay N

Application of XGBoost model for in-situ water saturation determination in Canadian oil-sands by LF-NMR and density data

利用低频核磁共振和密度数据,应用XGBoost模型测定加拿大油砂原位含水饱和度

Markovic, Strahinja; Bryan, Jonathan L; Rezaee, Reza; Turakhanov, Aman; Cheremisin, Alexey; Kantzas, Apostolos; Koroteev, Dmitry

Pilot Screening of Cell-Free mtDNA in NIPT: Quality Control, Variant Calling, and Haplogroup Determination

无创产前检测中游离线粒体DNA的初步筛查:质量控制、变异检测和单倍群鉴定

Morshneva, Alisa; Kozyulina, Polina; Vashukova, Elena; Tarasenko, Olga; Dvoynova, Natalia; Chentsova, Anastasia; Talantova, Olga; Koroteev, Alexander; Ivanov, Dmitrii; Serebryakova, Elena; Ivashchenko, Tatyana; Sukhomyasova, Aitalina; Maksimova, Nadezhda; Bespalova, Olesya; Kogan, Igor; Baranov, Vladislav; Glotov, Andrey

Properties of Dicationic Disiloxane Ionic Liquids

双阳离子二硅氧烷离子液体的性质

Vladimir G Krasovskiy, Gennady I Kapustin, Olga B Gorbatsevich, Lev M Glukhov, Elena A Chernikova, Anatoly A Koroteev, Leonid M Kustov