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

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

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

Multiple Chromoanasynthesis in a Rare Case of Sporadic Renal Leiomyosarcoma: A Case Report

散发性肾平滑肌肉瘤罕见病例中的多重染色质合成:病例报告

Anoshkin, Kirill Igorevich; Karandasheva, Kristina Olegovna; Goryacheva, Kristina Mikhaylovna; Pyankov, Denis Valer'yevich; Koshkin, Philipp Aleksandrovich; Pavlova, Tatiana Vladimirovna; Bobin, Alexandr Nikolaevich; Shpot, Evgeniy Valer'yevich; Chernov, Yaroslav Nikolayevich; Vinarov, Andrei Zinov'yevich; Zaletaev, Dmitry Vladimirovich; Kutsev, Sergei Ivanovich; Strelnikov, Vladimir Viktorovich