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

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

Exploring the Phenotypic Heterogeneity and Bioenergetic Profile of the m.13513G>A mtDNA Substitution: A Heteroplasmy Perspective

从异质性视角探索m.13513G>A mtDNA替换的表型异质性和生物能量学特征

Krylova, Tatiana; Itkis, Yulia; Tsygankova, Polina; Chistol, Denis; Lyamzaev, Konstantin; Tabakov, Vyacheslav; Mikhaylova, Svetlana; Nikitina, Natalia; Rudenskaya, Galina; Murtazina, Aysylu; Markova, Tatiana; Semenova, Natalia; Buchinskaya, Natalia; Saifullina, Elena; Aksyanova, Hasyanya; Sparber, Peter; Andreeva, Natalia; Venediktova, Natalia; Ivanushkina, Alina; Eliseeva, Daria; Murakhovskaya, Yulia; Sheremet, Natalia; Zakharova, Ekaterina

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

A Rare Coincidence of Three Inherited Diseases in a Family with Cardiomyopathy and Multiple Extracardiac Abnormalities

一个家族中罕见地同时患有三种遗传性疾病,伴有心肌病和多种心脏外异常

Bukaeva, Anna; Myasnikov, Roman; Kulikova, Olga; Meshkov, Alexey; Kiseleva, Anna; Petukhova, Anna; Zotova, Evgenia; Sparber, Peter; Ershova, Alexandra; Sotnikova, Evgeniia; Kudryavtseva, Maria; Zharikova, Anastasia; Koretskiy, Sergey; Mershina, Elena; Ramensky, Vasily; Zaicenoka, Marija; Vyatkin, Yuri; Muraveva, Alisa; Abisheva, Alexandra; Nikityuk, Tatiana; Sinitsyn, Valentin; Divashuk, Mikhail; Dadali, Elena; Pokrovskaya, Maria; Drapkina, Oxana

The Missing Piece of the Puzzle: Unveiling the Role of PTPN11 Gene in Multiple Osteochondromas in a Large Cohort Study.

拼图缺失的一环:一项大型队列研究揭示了 PTPN11 基因在多发性骨软骨瘤中的作用

Borovikov Artem, Galeeva Nailya, Marakhonov Andrey, Murtazina Aysylu, Kadnikova Varvara, Davydenko Kseniya, Orlova Anna, Sparber Peter, Markova Tatiana, Orlova Maria, Osipova Darya, Nagornova Tatyana, Semenova Natalia, Levchenko Olga, Filatova Alexandra, Sharova Margarita, Vasiluev Peter, Kanivets Ilya, Pyankov Denis, Sharkov Artem, Udalova Vasilisa, Kenis Vladimir, Nikitina Natalia, Sumina Maria, Zherdev Konstantin, Petel'guzov Aleksandr, Chelpachenko Oleg, Zubkov Pavel, Dan Ivan, Snetkov Andrey, Akinshina Alexandra, Buklemishev Yury, Ryzhkova Oxana, Tabakov Vyacheslav, Zakharova Ekaterina, Korostelev Sergey, Zinchenko Rena, Skoblov Mikhail, Polyakov Alexander, Dadali Elena, Kutsev Sergey, Shchagina Olga

TRA2B Gene Splice Variant Linked to Seizures and Neurodevelopmental Delay: A Second Case Study

TRA2B基因剪接变异与癫痫和神经发育迟缓相关:第二个病例研究

Shatokhina, Olga; Kovalskaia, Valeriia; Sparber, Peter; Sharkova, Inna; Mishina, Irina; Kuznetsova, Vera; Ryzhkova, Oxana

Specificities of the DMD Gene Mutation Spectrum in Russian Patients

俄罗斯患者DMD基因突变谱的特殊性

Zinina, Elena; Bulakh, Maria; Chukhrova, Alena; Ryzhkova, Oksana; Sparber, Peter; Shchagina, Olga; Polyakov, Aleksander; Kutsev, Sergey

Case Report: Phenotype-Driven Diagnosis of Atypical Dravet-Like Syndrome Caused by a Novel Splicing Variant in the SCN2A Gene

病例报告:基于表型诊断由SCN2A基因新型剪接变异引起的非典型Dravet样综合征

Sharkov, Artem; Sparber, Peter; Stepanova, Anna; Pyankov, Denis; Korostelev, Sergei; Skoblov, Mikhail

Investigation of LINC00493/SMIM26 Gene Suggests Its Dual Functioning at mRNA and Protein Level

对LINC00493/SMIM26基因的研究表明其在mRNA和蛋白质水平上具有双重功能。

Konina, Daria; Sparber, Peter; Viakhireva, Iuliia; Filatova, Alexandra; Skoblov, Mikhail

Case Report: Functional Investigation of an Undescribed Missense Variant Affecting Splicing in a Patient With Dravet Syndrome

病例报告:对一名患有Dravet综合征的患者中影响剪接的未描述错义变异进行功能研究

Sparber, Peter; Mikhaylova, Svetlana; Galkina, Varvara; Itkis, Yulia; Skoblov, Mikhail