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

Transcriptomic Profile of Directed Differentiation of iPSCs into Hepatocyte-like Cells.

iPSCs定向分化为肝细胞样细胞的转录组学特征。

Panchuk Irina, Kovalskaia Valeriia, Kochergin-Nikitsky Konstantin, Yakushina Valentina, Balinova Natalia, Ryzhkova Oxana, Lavrov Alexander, Smirnikhina Svetlana

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

13q Deletion Syndrome Presenting with Lymphopenia Detected Through Newborn Screening for Primary Immunodeficiencies

13q缺失综合征表现为淋巴细胞减少症,通过新生儿原发性免疫缺陷筛查发现

Efimova, Irina; Mukhina, Anna; Markova, Zhanna; Mordanov, Sergey; Soprunova, Irina; Pershin, Dmitry; Balinova, Natalya; Petrusenko, Yunna; Meleshko, Dmitry; Zinchenko, Rena; Shilova, Nadezhda; Voronin, Sergey; Shcherbina, Anna; Kutsev, Sergey; Marakhonov, Andrey

The Optimization of a Protocol for the Directed Differentiation of Induced Pluripotent Stem Cells into Liver Progenitor Cells and the Delivery of Transgenes.

诱导多能干细胞定向分化为肝祖细胞并递送转基因的方案优化

Panchuk Irina, Kovalskaia Valeriia, Balinova Natalia, Ryzhkova Oxana, Smirnikhina Svetlana

Harmonizing TREC Thresholds in Newborn Screening for SCID: Insights From Russian Validation Cohort

统一新生儿SCID筛查中的TREC阈值:来自俄罗斯验证队列的启示

Marakhonov, Andrey; Kalinina, Ekaterina; Larin, Sergey; Khadzhieva, Maryam; Dudina, Ekaterina; Mukhina, Anna; Rodina, Yulia; Efimova, Irina; Balinova, Natalya; Sermyagina, Irina; Shchagina, Olga; Zinchenko, Rena; Voronin, Sergey; Shcherbina, Anna; Kutsev, Sergey

Decreased TREC and KREC levels in newborns with trisomy 21

21三体综合征新生儿TREC和KREC水平降低

Marakhonov, Andrey; Mukhina, Anna; Vlasova, Elena; Efimova, Irina; Balinova, Natalya; Rodina, Yulia; Pershin, Dmitry; Markova, Zhanna; Minzhenkova, Marina; Shilova, Nadezhda; Mudaeva, Dzhaina; Saydaeva, Djamila; Irbaieva, Taisiya; Matulevich, Svetlana; Belyashova, Elena; Yakubovskiy, Grigoriy; Tebieva, Inna; Gabisova, Yulia; Ikaev, Murat; Irinina, Nataliya; Nurgalieva, Liya; Saifullina, Elena; Belyaeva, Tatiana; Romanova, Olga; Voronin, Sergey; Zinchenko, Rena; Shcherbina, Anna; Kutsev, Sergey

A Rare Case of TP63-Associated Lymphopenia Revealed by Newborn Screening Using TREC

使用 TREC 进行新生儿筛查发现罕见 TP63 相关淋巴细胞减少症病例

Andrey Marakhonov, Elena Serebryakova, Anna Mukhina, Anastasia Vechkasova, Nikolai Prokhorov, Irina Efimova, Natalia Balinova, Anastasia Lobenskaya, Tatyana Vasilyeva, Victoria Zabnenkova, Oxana Ryzhkova, Yulia Rodina, Dmitry Pershin, Nadezhda Soloveva, Anna Fomenko, Djamila Saydaeva, Aset Ibisheva,

Hereditary etiology of non-syndromic sensorineural hearing loss in the Republic of North Ossetia-Alania

北奥塞梯-阿兰共和国非综合征性感觉神经性听力损失的遗传病因

Petrova, Nika; Tebieva, Inna; Kadyshev, Vitaly; Getoeva, Zalina; Balinova, Natalia; Marakhonov, Andrey; Vasilyeva, Tatyana; Ginter, Evgeny; Kutsev, Sergey; Zinchenko, Rena

High frequency of complex CFTR alleles associated with c.1521_1523delCTT (F508del) in Russian cystic fibrosis patients

俄罗斯囊性纤维化患者中与 c.1521_1523delCTT (F508del) 相关的复杂 CFTR 等位基因频率较高

Petrova, Nika V; Kashirskaya, Nataliya Y; Vasilyeva, Tatyana A; Balinova, Natalia V; Marakhonov, Andrey V; Kondratyeva, Elena I; Zhekaite, Elena K; Voronkova, Anna Y; Kutsev, Sergey I; Zinchenko, Rena A