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

A Diagnostic Dilemma: Concurrent Diagnosis of Cystic Fibrosis and Definitive Kabuki Syndrome Type 1

诊断难题:囊性纤维化与确诊卡布奇综合征1型同时诊断

Vasilyeva, Tatyana; Kashirskaya, Nataliya; Mukhina, Anna; Bobreshova, Anastasia; Melyanovskaya, Yuliya; Karpova, Olga; Kazakov, Dmitriy; Marakhonov, Andrey; Pershin, Dmitry; Kondratyeva, Elena; Mikhalchuk, Kristina; Selina, Ekaterina; Sibgatullina, Farida; Shakirova, Almazia; Vafina, Zulfia; Shcherbina, Anna; Zinchenko, Rena

Different Diagnoses, Common Ancestry: 22q11.2 Deletion Syndrome and Wiskott-Aldrich Syndrome in the Same Family

不同诊断,共同祖先:同一家族中同时患有22q11.2缺失综合征和威斯科特-奥尔德里奇综合征

Bobreshova, Anastasia; Efimova, Irina; Mukhina, Anna; Bogdanova, Daria; Ogneva, Anna; Yukhacheva, Daria; Markova, Zhanna; Pershin, Dmitry; Rodina, Yulia; Balinova, Natalya; Raykina, Elena; Zhavoronok, Daria; Seitova, Gulnara; Orlov, Dmitrii; Drozdov, Gleb; Sermyagina, Irina; Zinchenko, Rena; Shilova, Nadezda; Polyakov, Alexander; Voronin, Sergey; Shcherbina, Anna; Kutsev, Sergey; Marakhonov, Andrey

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

Glutathione S-Transferase (GST) Activities and Gene Expression Patterns of Different GST Classes in Musca domestica L. Depending on Sex and Stage of Development

家蝇(Musca domestica L.)中不同GST类别的谷胱甘肽S-转移酶(GST)活性和基因表达模式随性别和发育阶段的变化

Garbaly, Vladislava; Krestonoshina, Kseniya; Kinareikina, Anna; Bobreshova, Svetlana; Avdeeva, Anastasiya; Ismagilova, Juliya; Zaitsev, Ivan; Silivanova, Elena

Case Report: Mild BRIC-like cholestasis despite a gross USP53 deletion-novel findings and literature review

病例报告:尽管存在严重的USP53缺失,但仍出现轻度BRIC样胆汁淤积——新发现及文献综述

Nuzhnaya, Ekaterina; Cherevatova, Tatiana; Lotnik, Ekaterina; Shagiazdanova, Aleksandra; Markova, Zhanna; Filimonova, Ekaterina; Parshina, Olga; Buianova, Anastasiia; Bobreshova, Anastasia; Marakhonov, Andrey; Semenova, Natalia

Masks of Albinism: Clinical Spectrum of Hermansky-Pudlak Syndrome

白化症的面具:赫尔曼斯基-普德拉克综合征的临床谱

Bobreshova, Anastasia M; Ionova, Sofya A; Kadyshev, Vitaly V; Sukhanova, Natella V; Viakhireva, Iuliia V; Filatova, Alexandra Yu; Zhurkova, Natalia V; Sparber, Peter A; Marakhonov, Andrey V; Vasilyeva, Tatyana A; Shchagina, Olga A; Kutsev, Sergey I; Zinchenko, Rena A

Perfluorosulfonic Acid Membranes with Short and Long Side Chains and Their Use in Sensors for the Determination of Markers of Viral Diseases in Saliva

具有短侧链和长侧链的全氟磺酸膜及其在唾液病毒疾病标志物检测传感器中的应用

Parshina, Anna V; Safronova, Ekaterina Yu; Novikova, Svetlana A; Stretton, Nastasia; Yelnikova, Anastasia S; Zhuchkov, Timur R; Bobreshova, Olga V; Yaroslavtsev, Andrey B

Perfluorosulfonic Acid Membranes Modified with Polyaniline and Hydrothermally Treated for Potentiometric Sensor Arrays for the Analysis of Combination Drugs

聚苯胺改性全氟磺酸膜经水热处理后可用于分析组合药物的电位传感器阵列

Anna Parshina, Anastasia Yelnikova, Tatyana Kolganova, Tatyana Titova, Polina Yurova, Irina Stenina, Olga Bobreshova, Andrey Yaroslavtsev

Potentiometric Sensor Arrays Based on Hybrid PFSA/CNTs Membranes for the Analysis of UV-Degraded Drugs

基于混合 PFSA/CNT 膜的电位传感器阵列用于紫外降解药物的分析

Anna Parshina, Anastasia Yelnikova, Ekaterina Safronova, Tatyana Kolganova, Olga Bobreshova, Andrey Yaroslavtsev

Multisensory Systems Based on Perfluorosulfonic Acid Membranes Modified with Functionalized CNTs for Determination of Sulfamethoxazole and Trimethoprim in Pharmaceuticals

基于功能化碳纳米管修饰的全氟磺酸膜的多传感器系统用于测定药物中的磺胺甲噁唑和甲氧苄啶

Parshina, Anna; Yelnikova, Anastasia; Safronova, Ekaterina; Kоlganova, Tatyana; Kuleshova, Victoria; Bobreshova, Olga; Yaroslavtsev, Andrey