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

Exploring the clinical and genetic spectrum of Steel syndrome: two case reports and review of the literature

探索斯蒂尔综合征的临床和遗传谱:两例病例报告及文献综述

Gorodilova, Daria; Kenis, Vladimir; Rustamov, Khushnud; Akimova, Daria; Skoblov, Mikhail; Merkuryeva, Elena; Morgul, Anna; Grigorieva, Alyona; Andreeva, Liliia; Zabnenkova, Victoria; Bulakh, Maria; Chistol, Denis; Raimkhodjaeva, Nasibakhon; Lavrov, Alexander; Hegay, Tatyana; Aripova, Tamara; Kutsev, Sergey; Markova, Tatiana

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

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

The Basis of Diversity in Laminopathy Phenotypes Caused by Variants in the Intron 8 Donor Splice Site of the LMNA Gene

LMNA基因内含子8供体剪接位点变异导致层粘蛋白病表型多样性的基础

Shchagina, Olga; Gilazova, Leisan; Filatova, Alexandra; Vafina, Zulfiia; Murtazina, Aysylu; Chigvintceva, Polina; Kudryashova, Olga; Polyakov, Aleksander; Kutsev, Sergey; Bulakh, Maria; Skoblov, Mikhail

Beyond the Known: Expanding the Clinical and Genetic Spectrum of Rare RPL13-Related Spondyloepimetaphyseal Dysplasia

超越已知:拓展罕见RPL13相关脊椎骨骺干骺端发育不良的临床和遗传谱

Gorodilova, Daria; Dadali, Elena; Kenis, Vladimir; Melchenko, Evgenii; Akimova, Daria; Bulakh, Maria; Orlova, Anna; Orlova, Maria; Shatokhina, Olga; Melnik, Evgeniya; Baud'huin, Marc; Skoblov, Mikhail; Kutsev, Sergey; Markova, Tatiana

Chromosomal Aberrations in Induced Pluripotent Stem Cells: Identification of Breakpoints in the Large DCC Gene and HIST2 Histone Gene Cluster

诱导多能干细胞的染色体畸变:大DCC基因和HIST2组蛋白基因簇中断点的鉴定

Zheglo, Diana; Pozhitnova, Victoria O; Kislova, Anastasiia V; Markova, Zhanna G; Kiselev, Danila; Sviridov, Philipp S; Sviridova, Valeria; Gumerova, Lyajsan I; Smirnikhina, Svetlana A; Alsalloum, Almaqdad; Pylina, Svetlana V; Kutsev, Sergey Ivanovich; Voronina, Ekaterina Sergeevna

Heterogeneity of Primary Ciliary Dyskinesia Gene Variants: A Genetic Database Analysis in Russia

原发性纤毛运动障碍基因变异的异质性:俄罗斯基因数据库分析

Kondratyeva, Elena I; Avdeev, Sergey N; Kyian, Tatiana A; Ryzhkova, Oksana P; Melyanovskaya, Yuliya L; Zabnenkova, Victoria V; Bulakh, Maria V; Merzhoeva, Zamira M; Bukhonin, Artem V; Trushenko, Natalia V; Lavginova, Baina B; Zhukova, Daria O; Kutsev, Sergey I

Mosaic Form of von Hippel-Lindau Syndrome: Case Report and Literature Review

冯·希佩尔-林道综合征嵌合型:病例报告及文献综述

Mikhaylenko, Dmitry S; Kuryakova, Natalya B; Efremova, Anna V; Volodin, Ilya V; Kutsev, Sergey I; Zaletaev, Dmitry V; Strelnikov, Vladimir V

DNA Methylation at a Single Locus of Human Genome Accurately Recapitulates Episignature of CREBBP-Related Rubinstein-Taybi Syndrome

人类基因组单个位点的DNA甲基化能够准确地重现CREBBP相关鲁宾斯坦-泰比综合征的表观遗传特征

Zemlianaia, Olga A; Kalinkin, Alexey I; Tanas, Alexander S; Efremova, Anna V; Volodin, Ilya V; Ismagilova, Olga R; Smirnov, Anton S; Zaletaev, Dmitry V; Nemtsova, Marina V; Kutsev, Sergey I; Strelnikov, Vladimir V