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

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

SUN-185 Clinical Characteristics Related Near Adult Height Outcomes In Turner Syndrome Patients Treated With Growth Hormone From The Lg Growth Study

来自 Lg Growth 研究的 SUN-185 临床特征与接受生长激素治疗的特纳综合征患者接近成年身高结果相关

Haworth, Robert S; Dashnyam, Semjidmaa; Avkiran, Metin; Kim, Yoo-Mi; Kim, Jae Hyun; Chae, Hyun-wook; Lee, Young Ah; Lee, Hae Sang; Kim, Ja Hye; Ahn, Moon Bae; Rhie, Young-Jun

Impact of COVID-19 on growth hormone therapy efficacy in pediatric patients with short stature

COVID-19 对矮小症患儿生长激素治疗疗效的影响

Kim, Yoo-Mi; Oh, Ah-Reum; Han, Heon-Seok; Yu, Jeesuk; Yu, Jaehong; Lee, Tae Kwan; Lee, Gyung Min; Choe, Jaewon; Oh, Jun Suk; Lim, Han Hyuk

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

Comparison of anthropometric, metabolic, and body compositional abnormalities in Korean children and adolescents born small, appropriate, and large for gestational age: a population-based study from KNHANES V (2010-2011)

韩国出生时体重偏小、适宜和偏大的儿童和青少年的体格测量、代谢和身体成分异常比较:一项基于韩国国民健康与营养调查第五期(2010-2011)的人群研究

Lee, Tae Kwan; Kim, Yoo Mi; Lim, Han Hyuk

7244 Kidney Donors With Metabolic Syndrome Have Increased Risk For Chronic Kidney Disease

7244名患有代谢综合征的肾脏捐献者罹患慢性肾脏病的风险增加

Kim, Yoo-Mi; Abdulmajeed, W I; Jamieson, B B; Thomas, S X; Rim, Y; Novak, A G; Campbell, R E; Piet, R; Martínez-Franco, Cybelle Daniela; Gomez-Perez, Francisco J; Vilatobá, Mario; Flores-Cárdenas, Romina; Cuevas-Ramos, Daniel

Exploring the Genetic Causes for Postnatal Growth Failure in Children Born Non-Small for Gestational Age

探究出生时胎龄非小于胎龄儿出生后生长发育迟缓的遗传原因

Kim, Yoo-Mi; Lim, Han-Hyuk; Kim, Eunhee; Kim, Geena; Kim, Minji; So, Hyejin; Lee, Byoung Kook; Kwon, Yoowon; Min, Jeesu; Lee, Young Seok

Identification of a novel therapeutic target underlying atypical manifestation of Gaucher disease

发现戈谢病非典型表现背后的新型治疗靶点

Kim, Eun Na; Do, Hyo-Sang; Jeong, Hwangkyo; Kim, Taeho; Heo, Sun Hee; Kim, Yoo-Mi; Cheon, Chong Kun; Lee, Yena; Choi, Yunha; Choi, In Hee; Choi, Jeongmin; Yoo, Han-Wook; Kim, Chong Jai; Zimran, Ari; Kim, Kyunggon; Lee, Beom Hee

Growth Responses During 3 Years of Growth Hormone Treatment in Children and Adolescents With Growth Hormone Deficiency: Comparison Between Idiopathic, Organic and Isolated Growth Hormone Deficiency, and Multiple Pituitary Hormone Deficiency

生长激素缺乏症儿童和青少年接受生长激素治疗3年期间的生长反应:特发性、器质性和孤立性生长激素缺乏症与多发性垂体激素缺乏症的比较

Lim, Han Hyuk; Kim, Yoo Mi; Lee, Gyung Min; Yu, Jaehong; Han, Heon-Seok; Yu, Jeesuk

Evaluation of users' level of satisfaction for an artificial intelligence-based diagnostic program in pediatric rare genetic diseases

评估用户对基于人工智能的儿科罕见遗传疾病诊断程序的满意度

Choi, In Hee; Seo, Go Hun; Park, JeongYun; Kim, Yoon-Myung; Cheon, Chong Kun; Kim, Yoo-Mi; Oh, Arum; Byeon, Jung Hye; Kang, Eungu; Shin, Young-Lim; Lee, Ji Eun; Kim, Su Jin; Yu, Hee Joon; Kim, Woo Jin; Choi, Byung Yoon; Kim, Bong Jik; Kim, Young Ho; Im, Gi Jung; Lee, Hyo-Jeong; Kim, Hyun Ji; Han, Se-Hee; Lee, Beom Hee; Eun, Baik-Lin