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

Allogenic mitochondria transfer improves cardiac function in iPS-cell-differentiated cardiomyocytes of a patient with Barth syndrome.

异体线粒体移植改善巴特综合征患者 iPS 细胞分化的心肌细胞的心脏功能

Kim Ye Seul, Yoo Sukdong, Jung Yoon Ji, Yoon Jung Won, Kwon Yong Seong, Lee Nayeon, Cheon Chong Kun, Kim Jae Ho

Genome Sequencing of Rare Disease Patients Through the Korean Regional Rare Disease Diagnostic Support Program

通过韩国区域罕见病诊断支持计划对罕见病患者进行基因组测序

Khang, Rin; Lee, Hane; Kim, Jihye; Moon, Dongseok; Jang, Seokhui; Lee, Eugene; Song, Yongjun; Ryu, Seung Woo; Lee, Sohyun; Han, Heonjong; Kim, Sukwon; Jang, Sohyun; Sohn, Young Bae; Kim, Won Seop; Lee, Ji-Eun; Kim, Juwon; Cho, Yonggon; Lee, Bo Lyun; Lim, Han Hyuk; Kook, Hoon; Kang, Ki-Soo; Kwon, Soonhak; Lee, Jiwon; Seo, Go Hun; Oh, Seung Hwan; Cheon, Chong Kun

Congenital hyperinsulinism due to NEUROD1 gene mutation

由 NEUROD1 基因突变引起的先天性高胰岛素血症

Kim, In; Cheon, Chong Kun

Multidisciplinary Care Model as a Center of Excellence for Fabry Disease: A Practical Guide to Diagnosis and Management by Clinical Specialty in South Korea

韩国法布里病卓越中心的多学科诊疗模式:按临床专科划分的诊断和治疗实用指南

Lee, Soo Yong; Kim, Il Young; Ahn, Sung-Ho; Kim, Su Jin; Lee, Hyun-Min; Lee, Ji Eun; Byeon, Gyeong-Jo; Ko, Hyun-Chang; Lee, Hyun Jung; Choi, Songhwa; Cheon, Chong Kun

Perivascular spaces and basilar artery remodeling in Fabry disease-a dual vascular pathology

法布里病中的血管周围间隙和基底动脉重塑——一种双重血管病理

Roh, Jieun; Cheon, Chong Kun; Lee, Soo-Yong; Baik, Seung-Kug; Park, Min-Gyu; Park, Kyung-Pil; Ahn, Sung-Ho

Comparison of growth hormone therapy response according to the presence of growth hormone deficiency in children born small for gestational age with short stature in Korea: a retrospective cohort study

韩国出生时胎龄偏小且身材矮小的儿童,根据是否存在生长激素缺乏症比较生长激素治疗反应:一项回顾性队列研究

Jo, Ha Young; Jang, Hyun Ji; Cheon, Chong Kun; Yoon, Ju Young; Yoo, Sukdong; Lee, Jung Hyun; Lee, Jeong Eun; Kim, Ye Jin; Kim, Sejin; Kim, Hyun-Ji; Choi, Im Jeong; Kwak, Min Jung

Long-term outcomes of enzyme replacement therapy from a large cohort of Korean patients with mucopolysaccharidosis IVA (Morquio A syndrome)

韩国大量粘多糖贮积症IVA型(莫尔基奥A型综合征)患者接受酶替代疗法的长期疗效

Sung, Juyoung; Kim, Insung; Im, Minji; Ahn, Yoon Ji; Kim, Sang-Mi; Jang, Ja-Hyun; Park, Hyung-Doo; Jeon, Tae Yeon; Ko, Kyung Rae; Park, Se-Jun; Lee, Jun Hwa; Kim, Eun Young; Cheon, Chong Kun; Kang, Eungu; Moon, Jung-Eun; Sohn, Young Bae; Lin, Hsiang-Yu; Chuang, Chih-Kuang; Lin, Shuan-Pei; Cho, Sung Yoon

[Achievements and Expectations of the Rare Disease Diagnostic Support Program in the Republic of Korea]

【韩国罕见病诊断支持计划的成就与展望】

Lee, Ye Eun; Kim, Jee Young; Choi, Jun Kil; Kim, Young Bae; Cheon, Chong Kun

RFC2 may contribute to the pathogenicity of Williams syndrome revealed in a zebrafish model.

RFC2 可能与斑马鱼模型中发现的威廉姆斯综合征的致病性有关

Park Ji-Won, Choi Tae-Ik, Kim Tae-Yoon, Lee Yu-Ri, Don Dilan Wellalage, George-Abraham Jaya K, Robak Laurie A, Trandafir Cristina C, Liu Pengfei, Rosenfeld Jill A, Kim Tae Hyeong, Petit Florence, Kim Yoo-Mi, Cheon Chong Kun, Lee Yoonsung, Kim Cheol-Hee

Healthcare professionals' perspectives towards the digitalisation of paediatric growth hormone therapies: expert panels in Italy and Korea

意大利和韩国的专家小组对儿科生长激素疗法数字化转型的看法

Rivera Romero, Octavio; Chae, Hyun Wook; Faienza, Maria Felicia; Vergani, Edoardo; Cheon, Chong Kun; Di Mase, Raffaella; Frasca, Francesco; Lee, Hae Sang; Giavoli, Claudia; Kim, Jihyun; Klain, Antonella; Moon, Jung Eun; Iezzi, Maria Laura; Yeh, James; Aversa, Antonio; Rhie, Young-Jun; Koledova, Ekaterina