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

WWP1 gain-of-function drives developmental anoikis through TGFβ pathway during neurodevelopment.

WWP1 功能获得通过 TGFβ 通路在神经发育过程中驱动发育性失巢凋亡。

So Ki Hurn, Lee Seungbok, Wong Jiayi, Lee Hyunsik, Yun Eun-Jin, Jang Se Song, Choi Hee-Jung, Chae Jong-Hee, Baek Seung Tae

Contribution of rare coding variants to microcephaly in individuals with neurodevelopmental disorders

罕见编码变异对神经发育障碍患者小头畸形的影响

Yoon, Jihoon G; Jang, Hyunsoo; Lee, Seungbok; Jang, Se Song; Park, Soojin; Cho, Jaeso; Kim, Minji; Han, Jiye; Yun, Hyounji; Kim, Man Jin; Kim, Soo Yeon; Kim, Woo Joong; Cho, Anna; Lee, Jin Sook; Choi, Murim; Fernandez-Jaen, Alberto; Silva, Sebastian; Uribe-San-Martín, Reinaldo; Cantillano, Christian; Miyake, Noriko; Lim, Byung Chan; Ko, Jung Min; Kim, Ki Joong; Yoon, Ki-Jun; Chae, Jong-Hee

Clinical utility of genome sequencing in rare diseases: lessons from a single-center study of 1,452 Korean families

基因组测序在罕见病中的临床应用:一项纳入1452个韩国家庭的单中心研究的启示

Lee, Seungbok; Seo, Go Hun; Kim, Soo Yeon; Jang, Se Song; Jang, Seoyun; Choi, Songji; Chin, Hyungjin; Lee, Seung Jae; Oh, Dong Eon; Ryu, Seung Woo; Kim, Jihye; Moon, Dongseok; Jang, Seokhui; Lim, Byung Chan; Moon, Jangsup; Han, Heonjong; Lee, Hane; Chae, Jong-Hee

Expanding the clinical and genetic spectrum of GLUL-related developmental and epileptic encephalopathy

扩大GLUL相关发育性和癫痫性脑病的临床和遗传谱

Oh, Dong Eon; Jang, Se Song; Kim, Woo Joong; Kim, Soo Yeon; Lim, Byung Chan; Kim, Ki Joong; Lee, Seungbok; Chae, Jong-Hee

Identification of a novel non-coding deletion in Allan-Herndon-Dudley syndrome by long-read HiFi genome sequencing

利用长读长HiFi基因组测序技术鉴定Allan-Herndon-Dudley综合征中一种新的非编码缺失

Yoon, Jihoon G; Lee, Seungbok; Park, Soojin; Jang, Se Song; Cho, Jaeso; Kim, Man Jin; Kim, Soo Yeon; Kim, Woo Joong; Lee, Jin Sook; Chae, Jong-Hee

Broadening the scope of multigene panel analysis for adult epilepsy patients

扩大成人癫痫患者多基因检测范围

Lee, Seungbok; Kang, Mi-Kyoung; So, Ki Hurn; Jang, Riyul; Shin, Yong Woo; Jang, Se Song; Yoon, Jihoon G; Kim, Sheehyun; Kim, Manjin; Chu, Kon; Lee, Sang Kun; Kim, Ki Joong; Baek, Seung Tae; Lim, Byung Chan; Moon, Jangsup

Clinical Practice Guidelines for Oropharyngeal Dysphagia

口咽吞咽困难临床实践指南

Yang, Seoyon; Park, Jin-Woo; Min, Kyunghoon; Lee, Yoon Se; Song, Young-Jin; Choi, Seong Hee; Kim, Doo Young; Lee, Seung Hak; Yang, Hee Seung; Cha, Wonjae; Kim, Ji Won; Oh, Byung-Mo; Seo, Han Gil; Kim, Min-Wook; Woo, Hee-Soon; Park, Sung-Jong; Jee, Sungju; Oh, Ju Sun; Park, Ki Deok; Jin, Young Ju; Han, Sungjun; Yoo, DooHan; Kim, Bo Hae; Lee, Hyun Haeng; Kim, Yeo Hyung; Kang, Min-Gu; Chung, Eun-Jae; Kim, Bo Ryun; Kim, Tae-Woo; Ko, Eun Jae; Park, Young Min; Park, Hanaro; Kim, Min-Su; Seok, Jungirl; Im, Sun; Ko, Sung-Hwa; Lim, Seong Hoon; Jung, Kee Wook; Lee, Tae Hee; Hong, Bo Young; Kim, Woojeong; Shin, Weon-Sun; Lee, Young Chan; Park, Sung Joon; Lim, Jeonghyun; Kim, Youngkook; Lee, Jung Hwan; Ahn, Kang-Min; Paeng, Jun-Young; Park, JeongYun; Song, Young Ae; Seo, Kyung Cheon; Ryu, Chang Hwan; Cho, Jae-Keun; Lee, Jee-Ho; Choi, Kyoung Hyo

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

Systematic analysis of inheritance pattern determination in genes that cause rare neurodevelopmental diseases

对导致罕见神经发育疾病的基因的遗传模式决定进行系统分析

Park, Soojin; Jang, Se Song; Lee, Seungbok; Kim, Minsoo; Sim, Hyungtai; Jeon, Hyeongseok; Hong, Sung Eun; Lee, Jean; Lee, Jeongeun; Jeon, Eun Young; Lee, Jeongha; Lee, Cho-Rong; Kim, Soo Yeon; Kim, Man Jin; Yoon, Jihoon G; Lim, Byung Chan; Kim, Woo Joong; Kim, Ki Joong; Ko, Jung Min; Cho, Anna; Lee, Jin Sook; Choi, Murim; Chae, Jong-Hee

The extended clinical and genetic spectrum of CTNNB1-related neurodevelopmental disorder

CTNNB1相关神经发育障碍的广泛临床和遗传谱

Lee, Seungbok; Jang, Se Song; Park, Soojin; Yoon, Jihoon G; Kim, Soo Yeon; Lim, Byung Chan; Chae, Jong Hee