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

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

Mitochondrial Complex IV Deficiency Nuclear Type 11 Caused by a Novel Start-Lost Variant in the COX20 Gene

线粒体复合物IV缺乏症核型11是由COX20基因中一种新的起始密码子缺失变异引起的

Kuchina, Anna; Borovikov, Artem; Sidorova, Olga; Orlova, Maria; Ryzhkova, Oxana; Zaigrin, Igor; Murtazina, Aysylu

A Case Report of Auditory Neuropathy Due to TWNK Gene Mutations

一例由TWNK基因突变引起的听神经病病例报告

Tufatulin, Gaziz Sharifovich; Garbaruk, Ekaterina Sergeevna; Lalayants, Maria Rafaelievna; Markova, Tatiana Gennadievna; Mefodovskaya, Elizaveta Konstantinovna; Koroleva, Inna Vasilievna; Ryzhkova, Oxana Petrovna; Orlova, Maria Dmitrievna; Shatokhina, Olga Leonidovna; Sugarova, Serafima Borisovna; Levin, Sergey Vladimirovich

New Case of Spinocerebellar Ataxia, Autosomal Recessive 4, Due to VPS13D Variants

一例由VPS13D变异引起的常染色体隐性遗传性脊髓小脑性共济失调4型新病例

Kistol, Denis; Tsygankova, Polina; Bostanova, Fatima; Orlova, Maria; Zakharova, Ekaterina

Pangenomics of flax fungal parasite Fusarium oxysporum f. sp. lini

亚麻真菌寄生虫 Fusarium oxysporum f 的泛基因组学。 sp。利尼

Anton Logachev #, Alexander Kanapin #, Tatyana Rozhmina, Vladislav Stanin, Mikhail Bankin, Anastasia Samsonova, Ekaterina Orlova, Maria Samsonova

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 first finding of parasitic mite, Parasteatonyssus nyctinomi (Mesostigmata: Gamasina: Macronyssidae), in Namibia

纳米比亚首次发现寄生螨 Parasteatonyssus nyctinomi(Mesostigmata:Gamasina:Macronyssidae)

Orlova, Maria V; Laverty, Theresa M; Reeves, Will K; Gratton, Elena M; Davies, Mallory L

Conservation genetics of the pond bat (Myotis dasycneme) with special focus on the populations in northwestern Germany and in Jutland, Denmark

池蝠(Myotis dasycneme)的保护遗传学研究,重点关注德国西北部和丹麦日德兰半岛的种群

Andersen, Liselotte Wesley; Dirksen, Ronja; Nikulina, Elena A; Baagøe, Hans J; Petersons, Gunars; Estók, Péter; Orlov, Oleg L; Orlova, Maria V; Gloza-Rausch, Florian; Göttsche, Matthias; Fjederholt, Esben Terp; Krüger, Frauke; Elmeros, Morten