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Showing results 1 to 23 of 23

Issue Date	Title / Author(s) / Citation	File
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
2008-08	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
2009-05	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
2009-07	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
2013-09	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
2017-07	Findings of a 1303 Korean whole-exome sequencing study Kwak, Soo Heon; Chae, Jeesoo; Choi, Seongmin; Kim, Min Jung; Choi, Murim; Chae, Jong-Hee; Cho, Eun-hae; Hwang, Tai Ju; Jang, Se Song; Kim, Jong-Il; Park, Kyong Soo; Bang, Yung-Jue Experimental and Molecular Medicine, Vol.49, p. e356	DOI
2018-12	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
2019-03	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
2019-09	Chronic inflammatory demyelinating polyneuropathy: Plasmapheresis or cyclosporine can be good treatment options in refractory cases Kim, WooJoong; Shim, Young Kyu; Choi, Sun Ah; Kim, Soo Yeon; Kim, Hunmin; Lim, Byung Chan; Hwang, Hee; Choi, Jieun; Kim, Ki Joong; Chae, Jong-Hee Neuromuscular Disorders, Vol.29 No.9, pp.684-692	DOI
2019-10	Elevated Serum Uric Acid in Benign Convulsions with Mild Gastroenteritis in Children Yoo, Il Han; Kim, Woojoong; Cho, Jaeso; Kim, Hunmin; Lim, Byung Chan; Hwang, Hee; Chae, Jong-Hee; Choi, Jieun; Kim, Ki Joong Journal of Clinical Neurology, Vol.15 No.4, pp.496-501	DOI
2019-10	Dissecting the phenotypic and genetic spectrum of early childhood-onset generalized epilepsies Kim, Soo Yeon; Jang, Se Song; Kim, Jong-Il; Kim, Hunmin; Hwang, Hee; Choi, Ji Eun; Chae, Jong-Hee; Kim, Ki Joong; Lim, Byung Chan Seizure : the journal of the British Epilepsy Association, Vol.71, pp.222-228	DOI
2019-12	Importance of early diagnosis in LMNA-related muscular dystrophy for cardiac surveillance Choi, Sun Ah; Cho, Anna; Kim, Soo Yeon; Kim, Woo Joong; Shim, Young Kyu; Lee, Jin Sook; Jang, Se Song; Lim, Byung Chan; Kim, Hunmin; Hwang, Hee; Choi, Ji Eun; Kim, Ki Joong; Kim, Man Jin; Seong, Moon-Woo; Chae, Jong-Hee Muscle and Nerve, Vol.60 No.6, pp.668-672	DOI
2020-01	Clinical and Genetic Spectrum of ATP1A3-Related Disorders in a Korean Pediatric Population Kim, Woo Joong; Shim, Young Kyu; Choi, Sun Ah; Kim, Soo Yeon; Kim, Hunmin; Hwang, Hee; Choi, Jieun; Kim, Ki Joong; Chae, Jong-Hee; Lim, Byung Chan Journal of Clinical Neurology, Vol.16 No.1, pp.75-82	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
2022-01	Clinico-radiological characteristics of anti-myelin oligodendrocyte glycoprotein antibody-associated autoimmune encephalitis in children Han, Ji Yeon; Kim, Soo Yeon; Kim, Hunmin; Hwang, Hee; Choi, Jieun; Chae, Jong-Hee; Kim, Ki Joong; Cheon, Jung-Eun; Lim, Byung Chan Developmental Medicine and Child Neurology	DOI
2022-02	Abnormal Development of Neural Stem Cell Niche in the Dentate Gyrus of Menkes Disease Cho, Sung-Kuk; Gwon, Suhyun; Kim, Hyun Ah; Kim, Jiwon; Cho, Sung Yoo; Kim, Dong-Eog; Chae, Jong-Hee; Park, Dae Hwi; Hwang, Yu Kyeong International Journal of Stem Cells, Vol.15 No.1, pp.1-13	DOI
2022-08	Fatal systemic disorder caused by biallelic variants in FARSA Kim, Soo Yeon; Ko, Saebom; Kang, Hyunook; Kim, Man Jin; Moon, Jangsup; Lim, Byung Chan; Kim, Ki Joong; Choi, Murim; Choi, Hee-Jung; Chae, Jong-Hee Orphanet Journal of Rare Diseases, Vol.17 No.1, p. 306	DOI
2022-09	Systematic analysis of inheritance pattern determination in genes that cause rare neurodevelopmental diseases Park, Soojin; Jang, Se Song; Lee, Seungbok; Kim, Minsoo; Sim, Hyungtai; Jeon, Hyeongseok; Hong, Sung Eun; Lee, Jean; Lee, Jeongeun; Jeon, Eun Young; Lee, Jeongha; Lee, Cho-Rong; Kim, Soo Yeon; Kim, Man Jin; Yoon, Jihoon G.; Lim, Byung Chan; Kim, Woo Joong; Kim, Ki Joong; Ko, Jung Min; Cho, Anna; Lee, Jin Sook; Choi, Murim; Chae, Jong-Hee Frontiers in Genetics, Vol.13, p. 990015	DOI
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