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

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

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

Clinical and Genetic Characteristics of Calvarial Doughnut Lesions with Bone Fragility in Three Families with a Reccurent SGMS2 Gene Variant

三个携带复发性SGMS2基因变异的家族中,伴有骨脆性的颅骨甜甜圈状病变的临床和遗传特征

Merkuryeva, Elena; Markova, Tatiana; Tyurin, Anton; Valeeva, Diana; Kenis, Vladimir; Sumina, Maria; Sorokin, Igor; Shchagina, Olga; Skoblov, Mikhail; Nefedova, Maria; Khusainova, Rita; Zakharova, Ekaterina; Dadali, Elena; Kutsev, Sergey

Rare IFT140-Associated Phenotype of Cranioectodermal Dysplasia and Features of Diagnostic Journey in Patients with Suspected Ciliopathies

罕见的IFT140相关颅外胚层发育不良表型及疑似纤毛病患者的诊断历程

Sharova, Margarita; Markova, Tatyana; Sumina, Maria; Petukhova, Marina; Bulakh, Maria; Ryzhkova, Oxana; Nagornova, Tatyana; Ionova, Sofya; Marakhonov, Andrey; Dadali, Elena; Kutsev, Sergey