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

A Unique Case of a Child with Two Rare Hereditary Diseases: Familial Dilated Cardiomyopathy and Arterial Calcification

一名患有两种罕见遗传疾病的儿童的特殊病例:家族性扩张型心肌病和动脉钙化

Burykina, Yulia; Chudakova, Daria; Zharova, Olga; Basargina, Elena; Silnova, Irina; Sdvigova, Natalia; Gandaeva, Leila; Davydova, Yulia; Kaverina, Valentina; Zhanin, Ilya; Pushkov, Alexander; Fisenko, Andrey; Savostyanov, Kirill

Genetic and Clinical Features of Schimke Immuno-Osseous Dysplasia: Single-Centre Retrospective Study of 21 Unrelated Paediatric Patients over a Period of 20 Years

Schimke免疫骨发育不良的遗传和临床特征:一项对21例无亲缘关系的儿科患者进行20年回顾性研究的单中心研究

Milovanova, Anastasiia; Ananin, Petr; Vashurina, Tatiana; Zrobok, Olga; Dmitrienko, Svetlana; Ryaposova, Alla; Tsygina, Elena; Pushkov, Alexander; Zhanin, Ilya; Chudakova, Daria; Asanov, Aliy; Shchagina, Olga; Polyakov, Aleksander; Fisenko, Andrey; Savostyanov, Kirill; Tsygin, Alexey

Pompe disease: a country-wide molecular screening in a cohort of 15,068 study participants

庞贝氏病:一项针对15068名研究参与者的全国性分子筛查

Pushkov, Aleksander; Chudakova, Daria; Zhanin, Ilya; Nikitin, Sergey; Basargina, Elena; Kuzenkova, Lydmila; Andreeva, Daria; Vasil'eva, Maria; Vasichkin, Sergey; Gabitova, Albina; Gaisina, Elena; Saifullina, Elena; Gamzatova, Amina; Gilvanova, Olga; Dudin, Vyacheslav; Ergina, Olga; Kurbatov, Sergey; Noskova, Elena; Osipova, Elena; Tihonova, Olga; Fedotova, Ekaterina; Nuzhny, Evgeny; Chernikova, Viktoria; Yamshchikova, Anastasia; Kyzina, Lubov; Irinina, Natalia; Rohlenko, Olga; Kutkova, Yulia; Popkova, Natalia; Ahunova, Alsy; Alexeeva, Alina; Mazanova, Natalia; Sdvigova, Nataliya; Gandaeva, Leyla; Zharova, Olga; Podkletnova, Tatyana; Sukhozhenko, Alexey; Rusakova, Anastasia; Demianov, Dmitry; Pakhomov, Aleksandr; Fisenko, Andrey; Savostyanov, Kirill

Case Series: Genetic mimics of hypertrophic cardiomyopathy in elderly

病例系列:老年人肥厚型心肌病的遗传模拟

Chumakova, Olga S; Drobyazko, Olga A; Stepanova, Elena A; Pushkov, Alexander A; Savostyanov, Kirill V; Zateyshchikov, Dmitry A

Precious2GPT: the combination of multiomics pretrained transformer and conditional diffusion for artificial multi-omics multi-species multi-tissue sample generation

Precious2GPT:结合多组学预训练Transformer和条件扩散算法,用于人工生成多组学、多物种、多组织样本。

Sidorenko, Denis; Pushkov, Stefan; Sakip, Akhmed; Leung, Geoffrey Ho Duen; Lok, Sarah Wing Yan; Urban, Anatoly; Zagirova, Diana; Veviorskiy, Alexander; Tihonova, Nina; Kalashnikov, Aleksandr; Kozlova, Ekaterina; Naumov, Vladimir; Pun, Frank W; Aliper, Alex; Ren, Feng; Zhavoronkov, Alex

Mutations in Mismatch Repair Genes and Microsatellite Instability Status in Pancreatic Cancer

胰腺癌中错配修复基因突变和微卫星不稳定性状态

Emelyanova, Marina; Ikonnikova, Anna; Pushkov, Alexander; Pudova, Elena; Krasnov, George; Popova, Anna; Zhanin, Ilya; Khomich, Darya; Abramov, Ivan; Tjulandin, Sergei; Gryadunov, Dmitry; Pokataev, Ilya

Biomedical generative pre-trained based transformer language model for age-related disease target discovery

基于预训练Transformer语言模型的生物医学生成式模型用于年龄相关疾病靶点发现

Zagirova, Diana; Pushkov, Stefan; Leung, Geoffrey Ho Duen; Liu, Bonnie Hei Man; Urban, Anatoly; Sidorenko, Denis; Kalashnikov, Aleksandr; Kozlova, Ekaterina; Naumov, Vladimir; Pun, Frank W; Ozerov, Ivan V; Aliper, Alex; Zhavoronkov, Alex

Safety and efficacy of canakinumab treatment for undifferentiated autoinflammatory diseases: the data of a retrospective cohort two-centered study

卡纳单抗治疗未分化自身炎症性疾病的安全性和有效性:一项回顾性双中心队列研究的数据

Alexeeva, Ekaterina; Shingarova, Meiri; Dvoryakovskaya, Tatyana; Lomakina, Olga; Fetisova, Anna; Isaeva, Ksenia; Chomakhidze, Aleksandra; Chibisova, Kristina; Krekhova, Elizaveta; Kozodaeva, Aleksandra; Savostyanov, Kirill; Pushkov, Aleksandr; Zhanin, Ilya; Demyanov, Dmitry; Suspitsin, Evgeny; Belozerov, Konstantin; Kostik, Mikhail

Genotype-Phenotype Correlations in 293 Russian Patients with Causal Fabry Disease Variants

293 名携带致病性法布里病变异的俄罗斯患者的基因型-表型相关性

Kirill Savostyanov, Alexander Pushkov, Ilya Zhanin, Natalya Mazanova, Alexander Pakhomov, Elena Trufanova, Alina Alexeeva, Dmitry Sladkov, Ludmila Kuzenkova, Aliy Asanov, Andrey Fisenko

Targeted NGS in Diagnostics of Genodermatosis Characterized by the Epidermolysis Bullosa Symptom Complex in 268 Russian Children

在268名俄罗斯儿童中,采用靶向NGS技术诊断以大疱性表皮松解症症状群为特征的遗传性皮肤病

Savostyanov, Kirill; Murashkin, Nikolay; Pushkov, Alexander; Zhanin, Ilya; Suleymanov, Elkhan; Akhkiamova, Mariya; Shchagina, Olga; Balanovska, Elena; Epishev, Roman; Polyakov, Aleksander; Fisenko, Andrey