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

Phenotype Variations in a Family with Various Rearrangements in the Locus of the SHOX Gene

SHOX基因位点发生不同重排的家族中表型变异

Beskorovainaya, Tatiana S; Markova, Tatiana V; Polyakov, Aleksander V; Shchagina, Olga A; Kenis, Vladimir M

Musculotendinous Anatomy in Congenital Split Foot: Anatomical Description of a Rare Case and Literature Review

先天性裂足的肌腱解剖:一例罕见病例的解剖描述及文献综述

Kenis, Vladimir; Starchik, Dmitry; Kochish, Alexander; Busarin, Dmitry; Abdiba, Nino

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

Molecular and Clinical Aspects of Osteogenesis Imperfecta Type VI: A Case Series with Novel SERPINF1 Gene Variants

VI型成骨不全的分子和临床方面:一组携带新型SERPINF1基因变异的病例

Merkuryeva, Elena S; Nagornova, Tatyana S; Kenis, Vladimir M; Deviataikina, Anna S; Akimova, Daria B; Buklaev, Dmitry S; Dantsev, Ilya S; Dulush, Aisluu O; Zakharova, Ekaterina Y; Markova, Tatiana V

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

Case Report: The widening genetic and phenotypic spectrum of ultra-rare PDE4D-related acroscyphodysplasia.

病例报告:PDE4D 相关肢端发育不良症的遗传和表型谱系不断扩大

Morgul Anna, Sharova Margarita, Kenis Vladimir, Orlova Maria, Ryzhkova Oxana, Markova Tatiana

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

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

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

Presentation of Rare Phenotypes Associated with the FKBP10 Gene

FKBP10基因相关罕见表型的介绍

Merkuryeva, Elena S; Markova, Tatiana V; Kenis, Vladimir M; Agranovich, Olga E; Dan, Ivan M; Kotalevskaya, Yulia Y; Shchagina, Olga A; Ryzhkova, Oxana P; Fomenko, Sergei S; Dadali, Elena L; Kutsev, Sergey I