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Showing results 1 to 9 of 9

Issue Date	Title / Author(s) / Citation	File	Altmetrics
2006-03	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
2007-12	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
2009-07	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
2010-04	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
2010-05	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
2010-06	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
2019-03	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
2020-12	Spectrum of movement disorders in GNAO1 encephalopathy: in-depth phenotyping and case-by-case analysis Kim, Soo Yeon; Shim, YoungKyu; Ko, Young Joon; Park, Soojin; Jang, Se Song; Lim, Byung Chan; Kim, Ki Joong; Chae, Jong-Hee Orphanet Journal of Rare Diseases. 2020 Dec 09;15(1):343	view file link
2022-10	The Korean undiagnosed diseases program phase I: expansion of the nationwide network and the development of long-term infrastructure Kim, Soo Y.; Lee, Seungbok; Woo, Hyewon; Han, Jiyeon; Ko, Young J.; Shim, Youngkyu; Park, Soojin; Jang, Se S.; Lim, Byung C.; Ko, Jung M.; Kim, Ki J.; Cho, Anna; Kim, Hunmin; Hwang, Hee; Choi, Ji E.; Kim, Man J.; Moon, Jangsup; Seong, Moon-Woo; Park, Sung S.; Choi, Sun A.; Lee, Ji E.; Kwon, Young S.; Sohn, Young B.; Kim, Jon S.; Kim, Won S.; Lee, Yun J.; Kwon, Soonhak; Kim, Young O.; Kook, Hoon; Cho, Yong G.; Cheon, Chong K.; Kang, Ki-Soo; Song, Mi-Ryoung; Kim, Young-Joon; Cha, Hyuk-Jin; Choi, Hee-Jung; Kee, Yun; Park, Sung-Gyoo; Baek, Seung T.; Choi, Murim; Ryu, Dong-Sung; Chae, Jong-Hee Orphanet Journal of Rare Diseases. 2022 Oct 08;17(1):372	view file link

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