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

Rapid Targeted Sequencing Using Dried Blood Spot Samples for Patients With Suspected Actionable Genetic Diseases

利用干血斑样本进行快速靶向测序,检测疑似患有可干预遗传疾病的患者

Kim, Man Jin; Kim, Soo Yeon; Lee, Jin Sook; Kang, Sanggoo; Park, Lae-Jeong; Choi, Wooyong; Jung, Ju Yeol; Kim, Taehyung; Park, Sung Sup; Ko, Jung Min; Seong, Moon-Woo; Chae, Jong Hee

The Korean Genetic Diagnosis Program for Rare Disease Phase II: outcomes of a 6-year national project

韩国罕见病基因诊断项目第二阶段:为期六年的国家项目成果

Man Jin Kim, Boram Kim, Heerah Lee, Jee-Soo Lee, Seung Won Chae, Ho Seob Shin, Sung Im Cho, Soo Yeon Kim, Jangsup Moon, Byung Chan Lim, Jung Min Ko, Jong-Hee Chae, Sung Sup Park, Moon-Woo Seong

Clinical staging and genetic profiling of Korean patients with primary lymphedema using targeted gene sequencing

利用靶向基因测序对韩国原发性淋巴水肿患者进行临床分期和基因谱分析

Seo, Soo Hyun; Lee, Seungjun; Park, Joseph Kyu-Hyung; Yang, Eun Joo; Kim, Boram; Lee, Jee-Soo; Kim, Man Jin; Park, Sung Sup; Seong, Moon-Woo; Nam, Sun-Young; Heo, Chan-Yeong; Myung, Yujin

Clinical Utility of Methylation-Specific Multiplex Ligation-Dependent Probe Amplification for the Diagnosis of Prader-Willi Syndrome and Angelman Syndrome

甲基化特异性多重连接依赖性探针扩增技术在普拉德-威利综合征和安格曼综合征诊断中的临床应用

Kim, Boram; Park, Yongsook; Cho, Sung Im; Kim, Man Jin; Chae, Jong-Hee; Kim, Ji Yeon; Seong, Moon-Woo; Park, Sung Sup

Rates of Coinfection Between SARS-CoV-2 and Other Respiratory Viruses in Korea

韩国SARS-CoV-2与其他呼吸道病毒合并感染率

Kim, Young-Gon; Park, Hyunwoong; Kim, So Yeon; Hong, Ki Ho; Kim, Man Jin; Lee, Jee-Soo; Park, Sung-Sup; Seong, Moon-Woo

SnackNTM: An Open-Source Software for Sanger Sequencing-based Identification of Nontuberculous Mycobacterial Species

SnackNTM:一款基于桑格测序的非结核分枝杆菌物种鉴定开源软件

Kim, Young-Gon; Jung, Kiwook; Kim, Seunghwan; Kim, Man Jin; Lee, Jee-Soo; Park, Sung-Sup; Seong, Moon-Woo

The First Korean Case of Griscelli Syndrome Type 2 With Hemophagocytic Lymphohistiocytosis and Partial Albinism

韩国首例伴有噬血细胞性淋巴组织细胞增生症和部分白化病的格里塞利综合征2型病例

Lee, Youngeun; Park, Hyun Jin; Kang, Hyoung Jin; Ko, Jung Min; Kim, Boram; Chang, Yoon Hwan; Kim, Hyun Kyung; Lee, Jee-Soo; Kim, Man Jin; Park, Sung Sup; Seong, Moon-Woo

Genetic mutation spectrum of pantothenate kinase-associated neurodegeneration expanded by breakpoint sequencing in pantothenate kinase 2 gene

通过对泛酸激酶2基因进行断点测序,扩展了泛酸激酶相关神经退行性疾病的遗传突变谱。

Yang, Dahae; Cho, Sanghyun; Cho, Sung Im; Kim, Manjin; Seong, Moon-Woo; Park, Sung Sup

The Korean undiagnosed diseases program phase I: expansion of the nationwide network and the development of long-term infrastructure

韩国未确诊疾病防治计划第一阶段:扩大全国网络并发展长期基础设施

Kim, Soo Yeon; Lee, Seungbok; Woo, Hyewon; Han, Jiyeon; Ko, Young Jun; Shim, Youngkyu; Park, Soojin; Jang, Se Song; Lim, Byung Chan; Ko, Jung Min; Kim, Ki Joong; Cho, Anna; Kim, Hunmin; Hwang, Hee; Choi, Ji Eun; Kim, Man Jin; Moon, Jangsup; Seong, Moon-Woo; Park, Sung Sup; Choi, Sun Ah; Lee, Ji Eun; Kwon, Young Se; Sohn, Young Bae; Kim, Jon Soo; Kim, Won Seop; Lee, Yun Jeong; Kwon, Soonhak; Kim, Young Ok; Kook, Hoon; Cho, Yong Gon; Cheon, Chong Kun; Kang, Ki-Soo; Song, Mi-Ryoung; Kim, Young-Joon; Cha, Hyuk-Jin; Choi, Hee-Jung; Kee, Yun; Park, Sung-Gyoo; Baek, Seung Tae; Choi, Murim; Ryu, Dong-Sung; Chae, Jong-Hee

Night-time gastric acid suppression by tegoprazan compared to vonoprazan or esomeprazole.

与伏诺拉赞或埃索美拉唑相比,替戈拉赞能更有效地抑制夜间胃酸分泌

Yang Eunsol, Kim Seokuee, Kim Bongtae, Kim Boram, Kim Yechan, Park Sung Sup, Song Geun Seog, Yu Kyung-Sang, Jang In-Jin, Lee SeungHwan