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

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

The Double Mutation DSG2-p.S363X and TBX20-p.D278X Is Associated with Left Ventricular Non-Compaction Cardiomyopathy: Case Report

DSG2-p.S363X 和 TBX20-p.D278X 双重突变与左心室致密化不全性心肌病相关:病例报告

Roman Myasnikov, Andreas Brodehl, Alexey Meshkov, Olga Kulikova, Anna Kiseleva, Greta Marie Pohl, Evgeniia Sotnikova, Mikhail Divashuk, Marina Klimushina, Anastasia Zharikova, Maria Pokrovskaya, Sergey Koretskiy, Maria Kharlap, Elena Mershina, Valentin Sinitsyn, Elena Basargina, Leila Gandaeva, Vlad