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

Clinical and Allelic Heterogeneity in a Small Cohort of Patients with Inherited Epidermolysis Bullosa

一小群遗传性大疱性表皮松解症患者的临床和等位基因异质性

Buianova, Anastasiia A; Yagizarova, Anastasia S; Kosykh, Anastasiya V; Kubanov, Alexey A; Belova, Vera A; Shmitko, Anna O; Karamova, Arfenya E; Martynova, Aleksandra A; Podmoskovnikov, Grigoriy S; Nefedova, Maria A; Monchakovskaya, Ekaterina S; Korostin, Dmitriy O; Gurskaya, Nadya G; Rebrikov, Denis V

ACE-Dependent Alzheimer's Disease: Circulating ACE Phenotypes in Heterozygous Carriers of Rare ACE Variants

ACE依赖性阿尔茨海默病:罕见ACE变异杂合子携带者的循环ACE表型

Mironenko, Iaroslav V; Kryukova, Olga V; Buianova, Anastasiia A; Churov, Alexey V; Arbatsky, Mikhail S; Kubrikova, Alyona A; Petrusenko, Yunna S; Repinskaia, Zhanna A; Shmitko, Anna O; Ilyina, Galit A; Kost, Olga A; Dudek, Steven M; Strazhesko, Irina D; Isaev, Ruslan I; Mkhitaryan, Elen A; Tkacheva, Olga N; Rebrikov, Denis V; Danilov, Sergei M

Comparative evaluation of four exome enrichment solutions in 2024: Agilent, Roche, Vazyme and Nanodigmbio

2024年四种外显子组富集解决方案的比较评估:安捷伦、罗氏、Vazyme和Nanodigmbio

Belova, Vera; Vasiliadis, Iuliia; Repinskaia, Zhanna; Samitova, Alina; Shmitko, Anna; Ponikarovskaya, Natalya; Suchalko, Oleg; Cheranev, Valery; Peter, Shatalov; Peter, Shegai; Andrey, Kaprin; Rebrikov, Denis; Korostin, Dmitriy

Neuronal ceroid lipofuscinosis type 5 in Russia: first case report and literature review

俄罗斯首例神经元蜡样脂褐质沉积症5型:病例报告及文献综述

Parshina, Olga P; Buianova, Anastasiia A; Mikhaylova, Svetlana V; Piliya, Sergey V; Alikhanov, Alikhan A; Donyush, Elena K; Kondrashova, Zinaida A; Liakhova, Nadezhda V; Suchalko, Oleg N; Samitova, Alina F; Shmitko, Anna O; Zazhivikhina, Mayya V; Votyakova, Natalya A; Korostin, Dmitriy O

Exome-wide association study of bleeding events in patients receiving direct oral anticoagulants

针对接受直接口服抗凝剂治疗的患者出血事件的全外显子组关联研究

Sychev, Dmitry A; Buianova, Anastasiia A; Abdullaev, Sherzod P; Mirzaev, Karin B; Belova, Vera A; Shmitko, Anna O; Cheranev, Valery V; Suchalko, Oleg N; Fedina, Lyudmila V; Batyukina, Svetlana V; Shatalova, Natalia A; Bochkov, Pavel O; Glagolev, Sergey V; Rebrikov, Denis V; Korostin, Dmitriy O

Experience in developing the human genome standard E701

人类基因组标准 E701 的开发经验

Vasiliadis, Iuliia; Belova, Vera; Shmitko, Anna; Kuznetsova, Anna; Samitova, Alina; Suchalko, Oleg; Goltsov, Andrey; Shatalov, Peter; Shegai, Peter; Kulyabina, Elena; Kulyabina, Tatiana; Melkova, Olga; Rebrikov, Denis; Korostin, Dmitriy

Heterogeneous Group of Genetically Determined Auditory Neuropathy Spectrum Disorders

遗传性听觉神经病谱系障碍的异质性群体

Buianova, Anastasiia A; Bazanova, Marina V; Belova, Vera A; Ilyina, Galit A; Samitova, Alina F; Shmitko, Anna O; Balakina, Anna V; Pavlova, Anna S; Suchalko, Oleg N; Korostin, Dmitriy O; Machalov, Anton S; Daikhes, Nikolai A; Rebrikov, Denis V

Trio-based exome sequencing and high-resolution HLA typing in families of patients with autoimmune adrenal insufficiency and autoimmune polyglandular syndrome

对自身免疫性肾上腺皮质功能不全和自身免疫性多腺体综合征患者家族进行基于三联体的外显子组测序和高分辨率HLA分型

Buianova, Anastasiia; Yukina, Marina; Cheranev, Valery; Suchalko, Oleg; Shmitko, Anna; Samitova, Alina; Nuralieva, Nurana; Kulagina, Elena; Savvateeva, Elena; Troshina, Ekaterina; Rebrikov, Denis; Gryadunov, Dmitry; Korostin, Dmitriy

Candidate Genes for IgA Nephropathy in Pediatric Patients: Exome-Wide Association Study

儿童IgA肾病候选基因:全外显子组关联研究

Buianova, Anastasiia A; Proskura, Mariia V; Cheranev, Valery V; Belova, Vera A; Shmitko, Anna O; Pavlova, Anna S; Vasiliadis, Iuliia A; Suchalko, Oleg N; Rebrikov, Denis V; Petrosyan, Edita K; Korostin, Dmitriy O

Lineage Conversion in Pediatric B-Cell Precursor Acute Leukemia under Blinatumomab Therapy

Blinatumomab治疗下儿童B细胞前体急性白血病的谱系转化

Semchenkova, Alexandra; Mikhailova, Ekaterina; Komkov, Alexander; Gaskova, Marina; Abasov, Ruslan; Matveev, Evgenii; Kazanov, Marat; Mamedov, Ilgar; Shmitko, Anna; Belova, Vera; Miroshnichenkova, Anna; Illarionova, Olga; Olshanskaya, Yulia; Tsaur, Grigory; Verzhbitskaya, Tatiana; Ponomareva, Natalia; Bronin, Gleb; Kondratchik, Konstantin; Fechina, Larisa; Diakonova, Yulia; Vavilova, Liudmila; Myakova, Natalia; Novichkova, Galina; Maschan, Alexey; Maschan, Michael; Zerkalenkova, Elena; Popov, Alexander