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

Evaluation of Team-Based Genetic Counseling Services in Korea

韩国团队式遗传咨询服务评估

Choi, In Hee; Ji, Su Min; Yang, Seo Yeon; Kim, Gu-Hwan; Lee, Jinhee; Choi, Sunyoung; Lee, Beom Hee

Caregiver quality of life and burden in rare genetic diseases in South Korea

韩国罕见遗传病照护者的生活质量和负担

Choi, Sunyoung; Kim, Ja Hye; Kim, Gu-Hwan; Lee, Beom Hee; Choi, In Hee

Ataluren-Induced Functional Restoration of Neurofibromin in Fibroblasts From Neurofibromatosis Type 1 Patients With Nonsense Mutations

阿塔卢伦诱导1型神经纤维瘤病患者无义突变成纤维细胞中神经纤维蛋白的功能恢复

Kim, Soyoung; Do, Hyosang; Heo, Sun Hee; Kang, Minji; Hwang, Soojin; Kim, Dohyung; Chang, Min-Hoo; Kim, Kyung; Lee, Beom Hee

Clinical implementation of a multidisciplinary pipeline for genome sequencing in rare diseases: A prospective, multicenter, observational cohort study

罕见病基因组测序多学科流程的临床应用:一项前瞻性、多中心、观察性队列研究

Hwang, Soojin; Seo, Go Hun; Choi, In Hee; Ryue, Seung-Woo; Oh, Ji Young; Kim, Yoo-Mi; Eun, Baik-Lin; Byeon, Jung Hye; Kang, Eugu; Kim, Myungshin; Kim, Hoon Seok; Lee, Soyoung; Kim, Han Wool; Kim, Dohyung; Khang, Rin; Kim, Jihye; Moon, Dongseok; Jang, Seokhui; Song, Yongjun; Kim, Gu-Hwan; Kim, Kyoung Bo; Park, Jun Hong; Yang, Seo Yeon; Choi, Yoo Kyoung; Ji, Su Min; Kim, Oc-Hee; Park, Mi-Hyun; Park, Hyun-Young; Lee, Beom Hee

Two novel genetic variants in the WFDC2 gene from patients with bronchiectasis

支气管扩张患者WFDC2基因中的两种新型遗传变异

Kim, Jeong-Min; Hwang, Soojin; Cho, Hye-Won; Kim, Youngjun; Shin, Dong Mun; Lee, Eun; Kim, Myungshin; Lee, Cheonghwa; Kim, Jong-Won; Park, Hyun-Young; Lee, Beom Hee; Park, Mi-Hyun

Therapeutic effects of lomerizine on vasculopathy in Fabry disease.

洛美利嗪对法布里病血管病变的治疗作用

Choi Jong Bin, Do Hyo-Sang, Seol Dong-Won, Yang Hee-Young, Kim Taek-Min, Byun Youkyeong Gloria, Park Jae-Min, Go Heounjeong, Park Jungjoo, Chung Won-Suk, Suh Jae Myoung, Lee Beom Hee, Wee Gabbine, Han Yong-Mahn

Endocrine manifestations and long-term outcomes of patients with mitochondrial diseases

线粒体疾病患者的内分泌表现和长期预后

Kim, Ja Hye; Kim, Dohyung; Hwang, Soojin; Kim, Gu-Hwan; Lee, Beom Hee; Yoo, Han-Wook; Choi, Jin-Ho

Factors that predict progression of von Hippel-Lindau disease-related malignancy: a longitudinal cohort study

预测冯·希佩尔-林道综合征相关恶性肿瘤进展的因素:一项纵向队列研究

Lee, Jae Ho; Lee, Hyun Young; Park, Ji Eun; Kim, Min-Ju; Hwang, Dae Wook; Chong, Sangjoon; Kim, Moinay; Lee, Joo Yong; Song, Cheryn; Lee, Beom Hee

Regional Prevalence and Molecular Detection of Enterocytozoon hepatopenaei in Coastal Shellfish from Korea

韩国沿海贝类中肝肠微孢子虫的区域流行情况及分子检测

Lee, Beom Hee; Noh, Eul Bit; Choi, Hee Jung; Kwon, Mun Gyeong; Kim, Bo Seong

Cross-cultural validation of the genetic counseling outcome scale in Korea

韩国遗传咨询结果量表的跨文化验证

Yang, Sojin; Chang, Yoon Jung; Kim, Kyung Ok; Lee, Beom Hee; Kong, Sun-Young; McAllister, Marion; Choi, In Hee