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

Inherited CARD9 Deficiency Due to a Founder Effect in East Asia

东亚人因创始人效应而遗传的 CARD9 缺陷

Dan Tomomasa #, Beom Hee Lee #, Yuki Hirata, Yuzaburo Inoue, Hidetaka Majima, Yusuke Imanaka, Takaki Asano, Takashi Katakami, Jina Lee, Atsushi Hijikata, Wittawin Worakitchanon, Xi Yang, Xiaowen Wang, Akira Watanabe, Katsuhiko Kamei, Yasufumi Kageyama, Go Hun Seo, Akihiro Fujimoto, Jean-Laurent Casa

Clinical and genetic characteristics of three patients with congenital insensitivity to pain with anhidrosis: Case reports and a review of the literature

三例先天性痛觉不敏感伴无汗症患者的临床和遗传特征:病例报告和文献综述

Jun Hee Cho, Soojin Hwang, Yoon Hae Kwak, Mi-Sun Yum, Go Hun Seo, June-Young Koh, Young Seok Ju, Ji-Hee Yoon, Minji Kang, Hyo-Sang Do, Soyoung Kim, Gu-Hwan Kim, Hyunwoo Bae, Beom Hee Lee

Clinical, radiographic and molecular characterization of two unrelated families with multicentric osteolysis, nodulosis, and arthropathy

两个无亲属关系的多中心骨溶解、结节病和关节病家族的临床、放射学和分子特征

Tayyaba Ishaq, Petra Loid, Hafiza Abida Ishaq, Go Hun Seo, Outi Mäkitie, Sadaf Naz3

Congenital Stationary Night Blindness: Clinical and Genetic Features

先天性静止性夜盲症:临床和遗传特征

Angela H Kim, Pei-Kang Liu, Yin-Hsi Chang, Eugene Yu-Chuan Kang, Hung-Hsuan Wang, Nelson Chen, Yun-Ju Tseng, Go Hun Seo, Hane Lee, Laura Liu, An-Ning Chao, Kuan-Jen Chen, Yih-Shiou Hwang, Wei-Chi Wu, Chi-Chun Lai, Stephen H Tsang, Meng-Chang Hsiao, Nan-Kai Wang

Phenotypic and molecular spectra of patients with switch/sucrose nonfermenting complex-related intellectual disability disorders in Korea

韩国患有 switch/蔗糖非发酵复合物相关智力障碍的患者的表型和分子谱

Yena Lee, Yunha Choi, Go Hun Seo, Gu-Hwan Kim, Changwon Keum, Yoo-Mi Kim, Hyo-Sang Do, Jeongmin Choi, In Hee Choi, Han-Wook Yoo, Beom Hee Lee

De Novo Development of mtDNA Deletion Due to Decreased POLG and SSBP1 Expression in Humans

由于人类 POLG 和 SSBP1 表达减少导致线粒体 DNA 缺失的新生

Yeonmi Lee, Taeho Kim, Miju Lee, Seongjun So, Mustafa Zafer Karagozlu, Go Hun Seo, In Hee Choi, Peter C W Lee, Chong-Jai Kim, Eunju Kang, Beom Hee Lee

Pharmacologic properties of high-dose ambroxol in four patients with Gaucher disease and myoclonic epilepsy

大剂量氨溴索对四例戈谢病和肌阵挛性癫痫患者的药理作用

Yoon-Myung Kim #, Mi-Sun Yum #, Sun Hee Heo, Taeho Kim, Hee Kyung Jin, Jae-Sung Bae, Go Hun Seo, Arum Oh, Hee Mang Yoon, Hyun Taek Lim, Hyo-Won Kim, Tae-Sung Ko, Hyeong-Seok Lim, Mark J Osborn, Jakub Tolar, Claudia Cozma, Arndt Rolfs, Ari Zimran, Beom Hee Lee #, Han-Wook Yoo #