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

RNA Analysis Uncovers Pathogenic PARN Variant in Dyskeratosis Congenita

RNA分析揭示先天性角化不良症中的致病性PARN变异

Akimova, Daria; Semenova, Natalia; Cherevatova, Tatiana; Skoblov, Mikhail

Karyotypic Profiling of Induced Pluripotent Stem Cells Derived from a Xeroderma Pigmentosum Group C Patient

对来自着色性干皮病C组患者的诱导多能干细胞进行核型分析

Alsalloum, Almaqdad; Mingaleva, Natalia; Gornostal, Ekaterina; Antysheva, Zoia; Sparber, Peter; Skoblov, Mikhail; Pozhitnova, Victoria; Belysheva, Tatiana; Levashova, Aygun; Kuznetsova, Ekaterina; Suvorova, Yulia; Krupinova, Julia; Bogdanov, Viktor; Abyzov, Alexej; Mityaeva, Olga; Volchkov, Pavel

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

A Novel Study of β1- and β2-Adrenergic Receptors Present on PBMCs, T Cells, Monocytes, and NK Cells by Radioligand Method: Quantitation and Correlations

利用放射性配体法对PBMC、T细胞、单核细胞和NK细胞上存在的β1-和β2-肾上腺素能受体进行定量和相关性研究

Peklo, Mihail M; Smolyakova, Ekaterina V; Lipatova, Lyudmila N; Kashirina, Natal'ya M; Skoblov, Yurij S; Skoblova, Natal'ya A; Slinkin, Mihail A; Rybalkin, Igor' N; Rutkevich, Pavel N; Chusovitina, Olga K; Yanushevskaya, Elena V; Zykov, Kirill A; Vlasik, Tat'yana N

Assessing Splicing Variants in the PAX6 Gene: A Comprehensive Minigene Approach

评估 PAX6 基因中的剪接变异:一种综合的微基因方法

Davydenko, Kseniya; Filatova, Alexandra; Skoblov, Mikhail

Functional Analysis of Complex Structural and Splice-Altering Variants in the ARSB Gene Towards the Personalized Antisense-Based Therapy for Mucopolysaccharidosis Type VI Patients

对ARSB基因中复杂结构和剪接改变变异体的功能分析,旨在为粘多糖贮积症VI型患者提供个性化的反义疗法

Bychkov, Igor; Filatova, Alexandra; Baydakova, Galina; Sikora, Nataliya; Garifullina, Emiliya; Bykova, Anna; Tabakov, Vyacheslav; Skretnev, Alexandr; Skoblov, Mikhail; Zakharova, Ekaterina

A novel homozygous splice-site variant in the FOCAD gene causing infantile liver cirrhosis and neutropenia: expanding disease phenotype and successful surgical treatment

FOCAD基因中一种新的纯合剪接位点变异导致婴儿肝硬化和中性粒细胞减少症:疾病表型不断扩展及手术治疗的成功案例

Nuzhnaya, Ekaterina; Zaklyazminskaya, Elena; Zabnenkova, Viktoriia; Akimova, Darya; Tatarsky, Evgeny; Dzik, Lana; Surkov, Andrey; Zhurkova, Natalia; Filin, Andrey; Metelin, Aleksej; Arakelyan, Anna; Savina, Viktoriya; Babayan, Arshak; Skoblov, Mikhail; Semenova, Natalia

Case Report: Dual pathogenic mechanism of a PRKG2 missense variant underlies an attenuated phenotype of acromesomelic dysplasia

病例报告:PRKG2错义变异的双重致病机制导致肢端中段发育不良表型减弱

Akimova, Daria; Markova, Tatiana; Orlova, Maria; Kenis, Vladimir; Skoblov, Mikhail