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

Uncovering potential causal genes for undiagnosed congenital anomalies using an in-house pipeline for trio-based whole-genome sequencing

利用自主研发的基于三联体全基因组测序的流程,揭示未确诊先天性异常的潜在致病基因

Kim, Jeong-Min; Cho, Hye-Won; Shin, Dong Mun; Kim, Oc-Hee; Kim, Jihyun; Lee, Hyeji; Lee, Gang-Hee; An, Joon-Yong; Yang, Misun; Jo, Heui Seung; Jang, Ja-Hyun; Chang, Yun Sil; Park, Hyun-Young; Park, Mi-Hyun

Unraveling the cellular characteristics of cardiomyopathy with rare variant-driven gene signatures using multi-omics analysis

利用多组学分析揭示罕见变异驱动的基因特征在心肌病细胞学中的应用

Jeong, Ha-Eun; Kim, Kyung-Hyun; Kim, Youngjun; Yu, Ho-Yeong; Shin, Dong Mun; Kim, Oc-Hee; Kim, Bong-Jo; Park, Mi-Hyun; Kim, Jihyun

Identification of novel MYO19 variants in neonatal hypertrophic cardiomyopathy: a familial analysis revealing oligogenic contributors to disease severity

新生儿肥厚型心肌病中新型MYO19变异体的鉴定:一项家族分析揭示了导致疾病严重程度的寡基因因素。

Cho, Hye-Won; Kim, Hyeseon; Kim, Jeong-Min; Shin, Dong Mun; Kim, Oc-Hee; Yang, Misun; Jo, Heui Seung; Jang, Mi-Ae; Jang, Ja-Hyun; Park, Hyun-Young; Chang, Yun Sil; Park, Mi-Hyun

Catharanthine Modulates Mesolimbic Dopamine Transmission and Nicotine Psychomotor Effects via Inhibition of α6-Nicotinic Receptors and Dopamine Transporters

长春碱通过抑制α6-尼古丁受体和多巴胺转运体来调节中脑边缘多巴胺传递和尼古丁的精神运动效应

Williams, Benjamin M; Steed, Nathan D; Woolley, Joel T; Moedl, Aubrey A; Nelson, Christina A; Jones, Gavin C; Burris, Matthew D; Arias, Hugo R; Kim, Oc-Hee; Jang, Eun Young; Hone, Arik J; McIntosh, J Michael; Yorgason, Jordan T; Steffensen, Scott C

Exploring novel MYH7 gene variants using in silico analyses in Korean patients with cardiomyopathy

利用计算机模拟分析探索韩国心肌病患者中新的MYH7基因变异

Kim, Oc-Hee; Kim, Jihyun; Kim, Youngjun; Lee, Soyoung; Lee, Beom Hee; Kim, Bong-Jo; Park, Hyun-Young; Park, Mi-Hyun

Chemical Analysis of an Isotopically Labeled Molecule Using Two-Dimensional NMR Spectroscopy at 34 μT

利用二维核磁共振波谱法在34 μT磁场下对同位素标记分子进行化学分析

Lee, Seong-Joo; Yu, Kwon Kyu; Hwang, Seong-Min; Oh, Sangwon; Song, Nam Woong; Jung, Hak-Sung; Han, Oc Hee; Shim, Jeong Hyun

Striatal miR-183-5p inhibits methamphetamine-induced locomotion by regulating glucocorticoid receptor signaling

纹状体 miR-183-5p 通过调节糖皮质激素受体信号抑制甲基苯丙胺诱导的运动

Sang-Hoon Song, Won-Jun Jang, Eun Young Jang, Oc-Hee Kim, Haesoo Kim, Taekwon Son, Dong-Young Choi, Sooyeun Lee, Chul-Ho Jeong

Effects of β-Phenylethylamine on Psychomotor, Rewarding, and Reinforcing Behaviors and Affective State: The Role of Dopamine D1 Receptors

β-苯乙胺对精神运动、奖赏和强化行为及情感状态的影响:多巴胺 D1 受体的作用

In Soo Ryu, Oc-Hee Kim, Ji Sun Kim, Sumin Sohn, Eun Sang Choe, Ri-Na Lim, Tae Wan Kim, Joung-Wook Seo, Eun Young Jang

Mitigating Effects of Liriope platyphylla on Nicotine-Induced Behavioral Sensitization and Quality Control of Compounds

白麦冬对尼古丁诱导行为致敏的缓解作用及化合物的质量控制

Dahye Yoon, In Soo Ryu, Woo Cheol Shin, Minhan Ka, Hyoung-Geun Kim, Eun Young Jang, Oc-Hee Kim, Young-Seob Lee, Joung-Wook Seo, Dae Young Lee