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Showing results 1 to 11 of 11

Issue Date	Title / Author(s) / Citation	File
2006	Mutational analysis of TSC1 and TSC2 in Korean patients with tuberous sclerosis complex Choi, Ji-Eun; Chae, Jong-Hee; Hwang, Yong-Seung; Kim, Ki-Joong Brain Dev. 2006 Aug;28(7):440-6. Epub 2006 Mar 22.	link
2007	Biochemical and genetic analysis of Leigh syndrome patients in Korea Chae, Jong-Hee; Lee, Jin Sook; Kim, Ki Joong; Hwang, Yong Seung; Hirano, Michio Brain Dev. 2008;30(6):387-390	link
2008	Merosin-deficient congenital muscular dystrophy in Korea Chae, Jong-Hee; Lee, Jin Sook; Hwang, Hee; Kim, Ki Joong; Hwang, Yong Seung; Park, June Dong; Cheon, Jung-Eun; Kim, In-One; Choe, Ghee Young; Park, Sung Hye Brain Dev 2008;31:341-6	link
2009	Merosin-deficient congenital muscular dystrophy in Korea Chae, Jong-Hee; Lee, Jin Sook; Hwang, Hee; Kim, Ki Joong; Park, June Dong; Kim, In-One; Park, Sung Hye; Choe, Ghee Young; Cheon, Jung-Eun; Hwang, Yong Seung BRAIN & DEVELOPMENT; Vol.31 5; 341-346	DOI
2009	Mutations in ND Subunits of Complex I Are an Important Genetic Cause of Childhood Mitochondrial Encephalopathies Lim, Byung Chan; Park, Jun Dong; Hwang, Hee; Kim, Ki Joong; Chae, Jong-Hee; Kim, In One; Moon, Han Ku; Lee, Ran; Cheon, Jung-Eun; Hwang, Yong Seung JOURNAL OF CHILD NEUROLOGY; Vol.24 7; 828-832	DOI
2010	Andersen Cardiodysrhythmic Periodic Paralysis With KCNJ2 Mutations: A Novel Mutation in the Pore Selectivity Filter Residue Lim, Byung Chan; Kim, Gi Beom; Bae, Eun Jung; Noh, Chung Il; Kim, Ki Joong; Ko, Tae Sung; Chae, Jong-Hee; Hwang, Yong Seung; Hwang, Hee JOURNAL OF CHILD NEUROLOGY; Vol.25 4; 490-493	DOI
2010	A single large-scale deletion of mtDNA in a child with recurrent encephalopathy and tubulopathy Chae, Jong-Hee; Lim, Byung Chan; Cheong, Hae Il; Hwang, Yong Seung; Hwang, Hee; Kim, Ki Joong JOURNAL OF THE NEUROLOGICAL SCIENCES; Vol.292 01월 02일; 104-106	DOI
2010	A 13-YEAR-OLD GIRL WITH PROXIMAL WEAKNESS AND HYPERTROPHIC CARDIOMYOPATHY WITH DANON DISEASE Kim, Hunmin; Cho, Anna; Lim, Byung Chan; Kim, Min Jung; Nishino, Ichizo; Chae, Jong-Hee; Hwang, Yong Seung; Kim, Ki Joong MUSCLE & NERVE; Vol.41(6); 879-882	DOI
2013	A Case of Japanese Encephalitis Presenting with Fever and Seizure in a 7-month old Infant Kim, Soo Yeon; Kim, Jon Soo; Lee, Hyun Ju; Kim, Hunmin; Lim, Byung Chan; Hwang, Hee; Chae, Jong-Hee; Choi, Jieun; Kim, Ki Joong; Hwang, Yong Seung 대한소아신경학회지 Vol.21 No.3, pp. 170-175	view file
2018	dCas9-mediated nanoelectrokinetic direct detection of target gene for liquid biopsy Lee, Hyomin; Choi, Jihye; Jeong, Euihwan; Baek, Seongho; Kim, Hee Chan; Chae, Jong-Hee; Koh, Youngil; Seo, Sang Woo; Kim, Jin-Soo; Kim, Sung Jae Nano Letters, Vol.18 No.12, pp.7642-7650	DOI
2019	The Korean undiagnosed diseases program: lessons from a one-year pilot project Kim, Soo Yeon; Lim, Byung Chan; Lee, Jin Sook; Kim, Woo Joong; Kim, Hyuna; Ko, Jung Min; Kim, Ki Joong; Choi, Sun Ah; Kim, Hunmin; Hwang, Hee; Choi, Ji Eun; Cho, Anna; Moon, Jangsup; Seong, Moon Woo; Park, Sung Sup; Lee, Yun Jeong; Kim, Young Ok; Kim, Jon Soo; Kim, Won Seop; Kwon, Young Se; Park, June Dong; Ahn, Younjhin; Hwang, Joo-Yeon; Park, Hyun-Young; Lee, Youngha; Choi, Murim; Chae, Jong-Hee Orphanet Journal of Rare Diseases. 2019 Mar 20;14(1):68	view file DOI

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