First Molecular Diagnosis of a Patient with Unverricht-Lundborg Disease in Korea

por Kim, Ki Hoon, Song, Ju Sun, Park, Chan Wook, Ki, Chang-Seok, Heo, Kyoung
Publicado 2018

Development of Crohn’s Disease in a Child With SLC26A3-related Congenital Chloride Diarrhea: Report of the First Case in East Asia and a Novel Missense Variant

por Kim, Eun Sil, Song, Ju Sun, Ki, Chang-Seok, Choe, Yon Ho, Kang, Ben
Publicado 2021

A Cryptic ETV6/ABL1 Rearrangement Represents a Unique Fluorescence In Situ Hybridization Signal Pattern in a Patient with B Acute Lymphoblastic Leukemia

por Song, Ju Sun, Shin, Sang-Yong, Lee, Seung-Tae, Kim, Hee-Jin, Kim, Sun-Hee
Publicado 2014

Mutation Analysis of the TGFBI Gene in Consecutive Korean Patients With Corneal Dystrophies

por Song, Ju Sun, Lim, Dong Hui, Chung, Eui-Sang, Chung, Tae-Young, Ki, Chang-Seok
Publicado 2015

Novel 4-bp Intronic Deletion (c.1560+3_1560+6del) in LEMD3 in a Korean Patient With Osteopoikilosis

por Yoo, In Young, Song, Ju-Sun, Ki, Chang-Seok, Kim, Jong-Won, Cha, Hoon-Suk, Min, Yong-Ki
Publicado 2017

A Case of Antley-Bixler Syndrome With a Novel Likely Pathogenic Variant (c.529G>C) in the POR Gene

por Oh, Jongwon, Song, Ju-Sun, Park, Jong Eun, Jang, Shin Yi, Ki, Chang-Seok, Kim, Duk-Kyung
Publicado 2017

Absence of HLA-B(*)1502 and HLA-A(*)3101 Alleles in 9 Korean Patients With Antiepileptic Drug-Induced Skin Rash: A Preliminary Study

por Song, Ju Sun, Kang, Eun-Suk, Joo, Eun Yeon, Hong, Seung Bong, Seo, Dae-Won, Lee, Soo-Youn
Publicado 2014

Identification of Somatic KRAS Mutation in a Korean Baby with Nevus Sebaceus Syndrome

por Kim, Sung Woo, Song, Ju Sun, Kang, Mi Seon, Sin, Jong Beom, Ki, Chang-Seok, Jeon, Ga Won
Publicado 2015

A Novel Heterozygous Missense Variant (c.667G>T;p.Gly223Cys) in USH1C That Interferes With Cadherin-Related 23 and Harmonin Interaction Causes Autosomal Dominant Nonsyndromic Heari...

por Song, Ju Sun, Bahloul, Amel, Petit, Christine, Kim, Sang Jin, Moon, Il Joon, Lee, Jinhyuk, Ki, Change-Seok
Publicado 2020

Significance of Myositis Autoantibody in Patients with Idiopathic Interstitial Lung Disease

por Song, Ju Sun, Hwang, Jiwon, Cha, Hoon-Suk, Jeong, Byeong-Ho, Suh, Gee Young, Chung, Man Pyo, Kang, Eun-Suk
Publicado 2015

Clinical Characteristics and Genotype-Phenotype Correlation of Korean Patients with Spinal and Bulbar Muscular Atrophy

por Song, Ju Sun, Kim, Kyung-Ah, Min, Ju-Hong, Ki, Chang-Seok, Kim, Jong-Won, Sung, Duk Hyun, Kim, Byoung Joon
Publicado 2015

Identification of Pathogenic Variants in the CHM Gene in Two Korean Patients With Choroideremia

por Bae, Kunho, Song, Ju Sun, Lee, Chung, Kim, Nayoung K.D., Park, Woong-Yang, Kim, Byoung Joon, Ki, Chang-Seok, Kim, Sang Jin
Publicado 2017

First Report of Familial Dysalbuminemic Hyperthyroxinemia With an ALB Variant

por Cho, Yoon Young, Song, Ju-Sun, Park, Hyung-Doo, Kim, Young Nam, Kim, Hye-In, Kim, Tae Hyuk, Chung, Jae Hoon, Ki, Chang-Seok, Kim, Sun Wook
Publicado 2017

Clinical Characteristics of Marfan Syndrome in Korea

por Lim, A Young, Song, Ju Sun, Kim, Eun Kyoung, Jang, Shin Yi, Chung, Tae-Young, Choi, Seung-Hyuk, Sung, Kiick, Huh, June, Kang, I-Seok, Choe, Yeon Hyeon, Ki, Chang-Seok, Kim, Duk-Kyung
Publicado 2016

Urinary Microbiome Characteristics in Female Patients with Acute Uncomplicated Cystitis and Recurrent Cystitis

por Yoo, Jeong-Ju, Shin, Hee Bong, Song, Ju Sun, Kim, Minjung, Yun, Jina, Kim, Zisun, Lee, Yoo Min, Lee, Sang Wook, Lee, Kwang Woo, Kim, Woong bin, Ryu, Chang Beom, Park, Sung-Woo, Park, Seong Kyu, Song, Ho-Yeon, Kim, Young Ho
Publicado 2021

Gardnerella vaginalis in Recurrent Urinary Tract Infection Is Associated with Dysbiosis of the Bladder Microbiome

por Yoo, Jeong-Ju, Song, Ju Sun, Kim, Woong Bin, Yun, Jina, Shin, Hee Bong, Jang, Mi-Ae, Ryu, Chang Beom, Kim, Sung Shin, Chung, Jun Chul, Kuk, Jung Cheol, Shin, Eung Jin, Song, Ho-Yeon, Yu, Byung Chul, Lee, Eek-Sung, Ryu, Seongho, Kim, Jae Heon, Jung, Sung Soo, Kim, Young Ho
Publicado 2022