Syndromic Hearing Loss in Association with -Related Disorder: The Experience of Cochlear Implantation in a Child with LEOPARD Syndrome

by Ho-Suk Chu, Hae-Sun Chung, Moon-Hee Ko, Hee-Jin Kim, Chang-Seok Ki, Won-Ho Chung, Yang-Sun Cho, Sung Hwa Hong
Published 2013-06-01

SNP linkage analysis and whole exome sequencing identify a novel POU4F3 mutation in autosomal dominant late-onset nonsyndromic hearing loss (DFNA15).

by Hee-Jin Kim, Hong-Hee Won, Kyoung-Jin Park, Sung Hwa Hong, Chang-Seok Ki, Sang Sun Cho, Hanka Venselaar, Gert Vriend, Jong-Won Kim
Published 2013-01-01

A Polymorphism in RNF213 Is a Susceptibility Gene for Intracranial Atherosclerosis.

by Oh Young Bang, Jong-Won Chung, Jihoon Cha, Mi Ji Lee, Je Young Yeon, Chang-Seok Ki, Pyoung Jeon, Jong-Soo Kim, Seung Chyul Hong
Published 2016-01-01

Midbrain Hypometabolism in Fatal Familial Insomnia: A Case Report and a Statistical Parametric Mapping Analysis of a Korean Family

by Mi Ji Lee, Jisoo Shin, Eun Joo Chung, Sang-Jin Kim, Soonwook Kwon, Jung-Hyun Kim, Sang Won Seo, Chang-Seok Ki, Duk L. Na
Published 2014-10-01

Spectrum of cognitive impairment in Korean ALS patients without known genetic mutations.

by Seong-il Oh, Aram Park, Hee-Jin Kim, Ki-Wook Oh, Hojin Choi, Min-Jung Kwon, Chang-Seok Ki, Hee-Tae Kim, Seung Hyun Kim
Published 2014-01-01

Klebsiella pneumoniae Co-Producing NDM-5 and OXA-181 Carbapenemases, South Korea

by Sun Young Cho, Hee Jae Huh, Jin Yang Baek, Na Yeon Chung, Jae Geum Ryu, Chang-Seok Ki, Doo Ryeon Chung, Nam Yong Lee, Jae-Hoon Song
Published 2015-06-01

<i>TERT</i> Promoter Mutations and the 8th Edition TNM Classification in Predicting the Survival of Thyroid Cancer Patients

by Jun Park, Sungjoo Lee, Kyunga Kim, Hyunju Park, Chang-Seok Ki, Young Lyun Oh, Jung Hee Shin, Jee Soo Kim, Sun Wook Kim, Jae Hoon Chung, Tae Hyuk Kim
Published 2021-02-01

Genotype-Related Clinical Characteristics and Myocardial Fibrosis and their Association with Prognosis in Hypertrophic Cardiomyopathy

by Hyung Yoon Kim, Jong Eun Park, Sang-Chol Lee, Eun-Seok Jeon, Young Keun On, Sung Mok Kim, Yeon Hyeon Choe, Chang-Seok Ki, Jong-Won Kim, Kye Hun Kim
Published 2020-06-01

Clinical Significance of Mycobacterium kansasii Isolates from Respiratory Specimens.

by Seong Mi Moon, Hye Yun Park, Kyeongman Jeon, Su-Young Kim, Myung Jin Chung, Hee Jae Huh, Chang-Seok Ki, Nam Yong Lee, Sung Jae Shin, Won-Jung Koh
Published 2015-01-01

Mycobacteriological characteristics and treatment outcomes in extrapulmonary Mycobacterium abscessus complex infections

by Suk Hyeon Jeong, Su-Young Kim, Hee Jae Huh, Chang-Seok Ki, Nam Yong Lee, Cheol-In Kang, Doo Ryeon Chung, Kyong Ran Peck, Sung Jae Shin, Won-Jung Koh
Published 2017-07-01

Identification of a novel mutation in a patient with pseudohypoparathyroidism type Ia

by Ye Seung Lee, Hui Kwon Kim, Hye Rim Kim, Jong Yoon Lee, Joong Wan Choi, Eun Ju Bae, Phil Soo Oh, Won Il Park, Chang Seok Ki, Hong Jin Lee
Published 2014-05-01

Proposal of a New Prognostic Model for Differentiated Thyroid Cancer with <i>TERT</i> Promoter Mutations

by Jun Park, Sungjoo Lee, Jiyun Park, Hyunju Park, Chang-Seok Ki, Young-Lyun Oh, Jung-Hee Shin, Jee-Soo Kim, Sun-Wook Kim, Jae-Hoon Chung, Kyunga Kim, Tae-Hyuk Kim
Published 2021-06-01

Identification of de novo EP300 and PLAU variants in a patient with Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal anomaly

by Jong Eun Park, Eunmi Kim, Dong-Won Lee, Taek Kyu Park, Min Sun Kim, Shin Yi Jang, Jaemyung Ahn, Kwang Bo Park, Keon-Ha Kim, Hae-Chul Park, Chang-Seok Ki, Duk-Kyung Kim
Published 2021-08-01

Highly Sensitive and Specific Molecular Test for Mutations in the Diagnosis of Thyroid Nodules: A Prospective Study of <i>BRAF</i>-Prevalent Population

by Yoon Young Cho, So Young Park, Jung Hee Shin, Young Lyun Oh, Jun-Ho Choe, Jung-Han Kim, Jee Soo Kim, Hyun Sook Yim, Yoo-Li Kim, Chang-Seok Ki, Tae Hyuk Kim, Jae Hoon Chung, Sun Wook Kim
Published 2020-08-01

Adult Moyamoya Disease: A Burden of Intracranial Stenosis in East Asians?

by Oh Young Bang, Sookyung Ryoo, Suk Jae Kim, Chang Hyo Yoon, Jihoon Cha, Je Young Yeon, Keon Ha Kim, Gyeong-Moon Kim, Chin-Sang Chung, Kwang Ho Lee, Hyung Jin Shin, Chang-Seok Ki, Pyoung Jeon, Jong-Soo Kim, Seung Chyul Hong
Published 2015-01-01

Genetic Confirmation and Identification of Novel Variants for Glanzmann Thrombasthenia and Other Inherited Platelet Function Disorders: A Study by the Korean Pediatric Hematology O...

by Eu Jeen Yang, Ye Jee Shim, Heung Sik Kim, Young Tak Lim, Ho Joon Im, Kyung-Nam Koh, Hyery Kim, Jin Kyung Suh, Eun Sil Park, Na Hee Lee, Young Bae Choi, Jeong Ok Hah, Jae Min Lee, Jung Woo Han, Jae Hee Lee, Young-Ho Lee, Hye Lim Jung, Jung-Sook Ha, Chang-Seok Ki, on behalf of the Benign Hematology Committee of the Korean Pediatric Hematology Oncology Group (KPHOG)
Published 2021-05-01

SORL1 is genetically associated with late-onset Alzheimer's disease in Japanese, Koreans and Caucasians.

by Akinori Miyashita, Asako Koike, Gyungah Jun, Li-San Wang, Satoshi Takahashi, Etsuro Matsubara, Takeshi Kawarabayashi, Mikio Shoji, Naoki Tomita, Hiroyuki Arai, Takashi Asada, Yasuo Harigaya, Masaki Ikeda, Masakuni Amari, Haruo Hanyu, Susumu Higuchi, Takeshi Ikeuchi, Masatoyo Nishizawa, Masaichi Suga, Yasuhiro Kawase, Hiroyasu Akatsu, Kenji Kosaka, Takayuki Yamamoto, Masaki Imagawa, Tsuyoshi Hamaguchi, Masahito Yamada, Takashi Morihara, Masatoshi Takeda, Takeo Takao, Kenji Nakata, Yoshikatsu Fujisawa, Ken Sasaki, Ken Watanabe, Kenji Nakashima, Katsuya Urakami, Terumi Ooya, Mitsuo Takahashi, Takefumi Yuzuriha, Kayoko Serikawa, Seishi Yoshimoto, Ryuji Nakagawa, Jong-Won Kim, Chang-Seok Ki, Hong-Hee Won, Duk L Na, Sang Won Seo, Inhee Mook-Jung, Alzheimer Disease Genetics Consortium, Peter St George-Hyslop, Richard Mayeux, Jonathan L Haines, Margaret A Pericak-Vance, Makiko Yoshida, Nao Nishida, Katsushi Tokunaga, Ken Yamamoto, Shoji Tsuji, Ichiro Kanazawa, Yasuo Ihara, Gerard D Schellenberg, Lindsay A Farrer, Ryozo Kuwano
Published 2013-01-01

Correction: SORL1 Is Genetically Associated with Late-Onset Alzheimer’s Disease in Japanese, Koreans and Caucasians

by Akinori Miyashita, Asako Koike, Gyungah Jun, Li-San Wang, Satoshi Takahashi, Etsuro Matsubara, Takeshi Kawarabayashi, Mikio Shoji, Naoki Tomita, Hiroyuki Arai, Takashi Asada, Yasuo Harigaya, Masaki Ikeda, Masakuni Amari, Haruo Hanyu, Susumu Higuchi, Takeshi Ikeuchi, Masatoyo Nishizawa, Masaichi Suga, Yasuhiro Kawase, Hiroyasu Akatsu, Kenji Kosaka, Takayuki Yamamoto, Masaki Imagawa, Tsuyoshi Hamaguchi, Masahito Yamada, Takashi Morihara, Masatoshi Takeda, Takeo Takao, Kenji Nakata, Yoshikatsu Fujisawa, Ken Sasaki, Ken Watanabe, Kenji Nakashima, Katsuya Urakami, Terumi Ooya, Mitsuo Takahashi, Takefumi Yuzuriha, Kayoko Serikawa, Seishi Yoshimoto, Ryuji Nakagawa, Jong-Won Kim, Chang-Seok Ki, Hong-Hee Won, Duk L. Na, Sang Won Seo, Inhee Mook-Jung, The Alzheimer Disease Genetics Consortium, Peter St. George-Hyslop, Richard Mayeux, Jonathan L. Haines, Margaret A. Pericak-Vance, Makiko Yoshida, Nao Nishida, Katsushi Tokunaga, Ken Yamamoto, Shoji Tsuji, Ichiro Kanazawa, Yasuo Ihara, Gerard D. Schellenberg, Lindsay A. Farrer, Ryozo Kuwano
Published 2013-01-01

Correction: Is Genetically Associated with Late-Onset Alzheimer’s Disease in Japanese, Koreans and Caucasians.

by Akinori Miyashita, Asako Koike, Gyungah Jun, Li-San Wang, Satoshi Takahashi, Etsuro Matsubara, Takeshi Kawarabayashi, Mikio Shoji, Naoki Tomita, Hiroyuki Arai, Takashi Asada, Yasuo Harigaya, Masaki Ikeda, Masakuni Amari, Haruo Hanyu, Susumu Higuchi, Takeshi Ikeuchi, Masatoyo Nishizawa, Masaichi Suga, Yasuhiro Kawase, Hiroyasu Akatsu, Kenji Kosaka, Takayuki Yamamoto, Masaki Imagawa, Tsuyoshi Hamaguchi, Masahito Yamada, Takashi Morihara, Masatoshi Takeda, Takeo Takao, Kenji Nakata, Yoshikatsu Fujisawa, Ken Sasaki, Ken Watanabe, Kenji Nakashima, Katsuya Urakami, Terumi Ooya, Mitsuo Takahashi, Takefumi Yuzuriha, Kayoko Serikawa, Seishi Yoshimoto, Ryuji Nakagawa, Jong-Won Kim, Chang-Seok Ki, Hong-Hee Won, Duk L. Na, Sang Won Seo, Inhee Mook-Jung, Peter St. George-Hyslop, Richard Mayeux, Jonathan L. Haines, Margaret A. Pericak-Vance, Makiko Yoshida, Nao Nishida, Katsushi Tokunaga, Ken Yamamoto, Shoji Tsuji, Ichiro Kanazawa, Yasuo Ihara, Gerard D. Schellenberg, Lindsay A. Farrer, Ryozo Kuwano
Published 2013-01-01