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

A New Case of PITX1-Related Mandibular-Pelvic-Patellar (MPP) Syndrome

PITX1相关下颌骨盆髌骨(MPP)综合征新病例

Melnik, Evgeniya; Petrova, Ekaterina; Markova, Tatiana; Zabudskaya, Ksenya; Dadali, Elena

A Spectrum of Pathogenic Variants in the LAMA2 Gene in the Russian Federation

俄罗斯联邦LAMA2基因致病变异谱

Chausova, Polina; Cherevatova, Tatiana; Dadali, Elena; Murtazina, Aysylu; Bulakh, Maria; Kurbatov, Sergei; Anisimova, Inga; Kanivets, Ilya; Udalova, Vasilisa; Rudenskaya, Galina; Demina, Nina; Sharkova, Inna; Monakhova, Anastasia; Tsygankova, Polina; Markova, Tatiana; Ryzhkova, Oksana; Shatohina, Olga; Galkina, Varvara; Borovikov, Artem; Mishina, Irina; Shchagina, Olga; Chukhrova, Alena; Polyakov, Aleksander

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

Balanced Translocations Involving the DMD Gene as a Cause of Muscular Dystrophy in Female Children: A Description of Three Cases

涉及DMD基因的平衡易位是导致女性儿童肌营养不良症的原因:三例病例报告

Vorontsova, Ekaterina O; Murtazina, Aysylu; Zinina, Elena; Polyakov, Alexander V; Sumina, Maria; Rybakova, Olga A; Vlodavets, Dmitry; Kazakov, Dmitry; Suvorova, Yulia; Sharkova, Inna V; Demina, Nina A; Repina, Svetlana A; Bulanova, Vera A; Antonova, Maria; Dadali, Elena; Marakhonov, Andrey V; Shilova, Nadezhda V; Kutsev, Sergey I; Shchagina, Olga A

Biallelic variants in the UTRN gene cause a novel form of multiple congenital arthrogryposis.

UTRN 基因的双等位基因变异会导致一种新型的多发性先天性关节挛缩症。

Melnik Evgeniya, Akimova Daria, Markova Tatiana, Tatarskiy Eugene, Tvorogova Anna, Zabnenkova Viktoria, Kenis Vladimir, Agranovich Olga, Skoblov Mikhail, Dadali Elena

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

The Genetic Basis of the First Patient with Wiedemann-Rautenstrauch Syndrome in the Russian Federation

俄罗斯联邦首例维德曼-劳滕施特劳赫综合征患者的遗传基础

Kovalskaia, Valeriia A; Kungurtseva, Anastasiia L; Bostanova, Fatima M; Vasiliev, Peter A; Tabakov, Vyacheslav Y; Orlova, Mariia D; Povolotskaya, Inna S; Novoselova, Olga G; Bikanov, Roman A; Akhyamova, Mariia A; Tikhonovich, Yulia V; Popovich, Anastasiia V; Vitebskaya, Alisa V; Dadali, Elena L; Ryzhkova, Oxana P

A New Case of Mitochondrial RNA Helicase SUPV3L1-Associated Neurodegenerative Disease: Ataxia, Spasticity, Optic Atrophy, and Skin Hypopigmentation (ASOASH)

线粒体RNA解旋酶SUPV3L1相关神经退行性疾病新病例:共济失调、痉挛、视神经萎缩和皮肤色素减退(ASOASH)

Tsygankova, Polina; Chistol, Denis; Krylova, Tatiana; Bychkov, Igor; Tabakov, Vyacheslav; Markova, Tatiana; Dadali, Elena; Zakharova, Ekaterina

Genetic Landscape of SH3TC2 variants in Russian patients with Charcot-Marie-Tooth disease

俄罗斯夏科-马里-图斯病患者SH3TC2变异的遗传图谱

Shchagina, Olga; Murtazina, Aysylu; Chausova, Polina; Orlova, Mariya; Dadali, Elena; Kurbatov, Sergei; Kutsev, Sergey; Polyakov, Aleksander