Zobrazeno 1 - 10
of 196
pro vyhledávání: '"Ah Reum Kim"'
Autor:
Jun Kyu Mun, Ah Reum Kim, Jong Hyeon Ahn, Minkyeong Kim, Jin Whan Cho, Jung-Il Lee, Kyung Rae Cho, Jinyoung Youn
Publikováno v:
Journal of Movement Disorders, Vol 13, Iss 2, Pp 154-158 (2020)
Although the KMT2B gene was identified as a causative gene for early-onset generalized dystonia, the efficacy of deep brain stimulation (DBS) in KMT2B-related dystonia has not been clearly elucidated. Here, we describe a 28-year-old woman who develop
Externí odkaz:
https://doaj.org/article/e6b7d0d0f1f44b5f9ec44546f7bec99f
Autor:
Jong Hyeon Ahn, Ah Reum Kim, Nayoung K. D. Kim, Woong-Yang Park, Ji Sun Kim, Minkyeong Kim, Jongkyu Park, Jung-Il Lee, Jin Whan Cho, Kyung Rae Cho, Jinyoung Youn
Publikováno v:
Journal of Movement Disorders, Vol 12, Iss 2, Pp 120-124 (2019)
Objective The aim of this study was to investigate the efficacy of globus pallidus interna deep brain stimulation (GPi-DBS) for treating dystonia due to the GNAL mutation. Methods We provide the first report of a dystonia patient with a genetically c
Externí odkaz:
https://doaj.org/article/e1fcb1c866ae47afaa86049809a49f8b
Autor:
Song Jung, Dayoung Lee, Sungjun Park, Kangwoo Lee, Yong-Sil Kweon, Eun-Jin Lee, Kyung Hee Yoon, Hannah Cho, Hyeji Jung, Ah Reum Kim, Bo-Ram Shin, Hyun Ju Hong
Publikováno v:
Child and Adolescent Psychiatry and Mental Health, Vol 13, Iss 1, Pp 1-6 (2019)
Abstract Background We investigated the characteristics of adolescents who committed suicide in South Korea, and how these characteristics differed by gender. Method Data from middle and high school students who committed suicide between 2014 and 201
Externí odkaz:
https://doaj.org/article/cdd0150ae2e0446c94fb4986c10d6cf5
Autor:
Bong Jik Kim, Jeong Hun Jang, Jin Hee Han, Hye-Rim Park, Doo Yi Oh, Seungmin Lee, Min Young Kim, Ah Reum Kim, Chung Lee, Nayoung K. D. Kim, Woong-Yang Park, Yun-Hoon Choung, Byung Yoon Choi
Publikováno v:
Journal of Translational Medicine, Vol 16, Iss 1, Pp 1-13 (2018)
Abstract Background While auditory neuropathy spectrum disorder (ANSD) is a heterogeneous disorder and its management quite varies depending upon the etiology, even including self-resolution, OTOF is an important molecular etiology of prelingual ANSD
Externí odkaz:
https://doaj.org/article/c7632d96a5b945deb874e5e9de126458
Autor:
Jiwon Lee, Jong Eun Park, Chung Lee, Ah Reum Kim, Byung Joon Kim, Woong-Yang Park, Chang-Seok Ki, Jeehun Lee
Publikováno v:
Frontiers in Genetics, Vol 11 (2021)
Microcephaly is a prevalent phenotype in patients with neurodevelopmental problems, often with genetic causes. We comprehensively investigated the clinical phenotypes and genetic background of microcephaly in 40 Korean patients. We analyzed their cli
Externí odkaz:
https://doaj.org/article/5be142fc0ca64da89207150d3e4cb5a7
Publikováno v:
Child and Adolescent Psychiatry and Mental Health, Vol 11, Iss 1, Pp 1-5 (2017)
Abstract Background The purpose of this study was to determine the characteristics of childhood suicidal deaths among elementary school students that occurred from 2011 to 2015 in Korea. Methods The report form of each suicide case by the teacher in
Externí odkaz:
https://doaj.org/article/db68bbfd51944ebcba184f2a801d5f4d
Autor:
Myeong-Jin Kim, Heeyeon Ryu, Hyeon Hak Jeong, Ji Yun Van, Ji Young Hwang, Ah-reum Kim, Jaeseong Seo, Kyoung Mi Moon, Won-Kyo Jung, Bonggi Lee
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-20 (2024)
Abstract Atopic dermatitis is a chronic complex inflammatory skin disorder that requires sustainable treatment methods due to the limited efficacy of conventional therapies. Sargassum serratifolium, an algal species with diverse bioactive substances,
Externí odkaz:
https://doaj.org/article/7923d663ebe1420a9eaabec64b334796
Autor:
Bong Jik Kim, Ah Reum Kim, Chung Lee, So Young Kim, Nayoung K D Kim, Mun Young Chang, Jihye Rhee, Mi-Hyun Park, Soo Kyung Koo, Min Young Kim, Jin Hee Han, Seung-Ha Oh, Woong-Yang Park, Byung Yoon Choi
Publikováno v:
PLoS ONE, Vol 11, Iss 10, p e0165680 (2016)
CDH23 mutations have mostly been associated with prelingual severe-to-profound sensorineural hearing loss (SNHL) in either syndromic or nonsyndromic SNHL (DFNB12). Herein, we demonstrate the contribution of CDH23 mutations to postlingual nonsyndromic
Externí odkaz:
https://doaj.org/article/69c00d0f45004cedbb04f6f19e0f28cf
Autor:
Kyu-Hee Han, Ah Reum Kim, Min Young Kim, Soyeon Ahn, Seung-Ha Oh, Ju Hun Song, Byung Yoon Choi
Publikováno v:
PLoS ONE, Vol 11, Iss 9, p e0161756 (2016)
Many cutting-edge technologies based on next-generation sequencing (NGS) have been employed to identify candidate variants responsible for sensorineural hearing loss (SNHL). However, these methods have limitations preventing their wide clinical use f
Externí odkaz:
https://doaj.org/article/e8bd772148544c7992088f7119e35196
Autor:
Ah Reum Kim, Juyong Chung, Nayoung K. D. Kim, Chung Lee, Woong-Yang Park, Doo-Yi Oh, Byung Yoon Choi
Publikováno v:
International Journal of Molecular Sciences, Vol 18, Iss 11, p 2246 (2017)
We performed targeted re-sequencing to identify the genetic etiology of early-onset postlingual deafness and encountered a frequent TMPRSS3 allele harboring two variants in a cis configuration. We aimed to evaluate the pathogenicity of the allele. Am
Externí odkaz:
https://doaj.org/article/1fe77f1a0dbb42e394ea6ce26d105cfb