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Showing results 1 to 36 of 36

Issue Date	Title / Author(s) / Citation	File
1998	소아의 모야모야병 환아에서 수술후 뇌파 양상의 변화와 뇌혈류 호전과의 관련성 채종희	link
2002	Mutation analysis of MECP2 and clinical characterization in Korean patients with Rett syndrome Chae, Jong Hee; Hwang, Yong Seung; Kim, Ki Joong J Child Neurol 2002;17:33-36	link
2002	MECP2 유전자의 돌연변이 유형과 X 염색체 불활성화가 Rett 증후군의 표현형에 미치는 영향 채종희	link
2006-03	Surgical outcome and prognostic factors of pediatric epilepsy caused by cortical dysplasia Park, C. K.; Kim, S. K.; Wang, K. C.; Hwang, Y. S.; Kim, K. J.; Chae, J. H.; Chi, J. G.; Choe, G. Y.; Kim, N. R.; Cho, B. K. Childs Nerv Syst 22:586-592	DOI
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
2008-05	Congenital thrombotic thrombocytopenic purpura associated with unilateral moyamoya disease Park, Hye Won; Oh, Doyeon; Kim, Namkeun; Cho, Hee Yeon; Moon, Kyung Chul; Chae, Jong Hee; Ahn, Hyo Seop; Choi, Yong; Cheong, Hae Il Pediatr Nephrol 23:1555-1558	DOI
2008-07	Congenital subependymal giant cell astrocytoma: clinical considerations and expression of radial glial cell markers in giant cells Phi, Ji Hoon; Park, Sung-Hye; Chae, Jong Hee; Hong, Ki Ho; Park, Sung Sup; Kang, Ji Hyun; Jun, Jong Kwan; Cho, Byung-Kyu; Wang, Kyu-Chang; Kim, Seung-Ki Childs Nerv Syst 24:1499-1503	DOI
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
2009-01	Molecular and clinical characteristics of myotonic dystrophy type 1 in koreans Kim, So Yeon; Kim, Ji Yeon; Kim, Gyoung Pyoung; Sung, Jung-Jun; Lim, Kyu Sang; Lee, Kwang-Woo; Chae, Jong Hee; Hong, Yoon-Ho; Seong, Moon-Woo; Park, Sung Sup Korean J Lab Med. 2008;28(6):483-492	view file 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
2010-01	A Novel DHCR7 Mutation in a Smith-Lemli-Opitz Syndrome Infant Presenting with Neonatal Cholestasis Ko, Jae Sung; Choi, Byung Sam; Seo, Jeong Kee; Shin, Jee Yeon; Kang, Gyeong Hoon; Ki, Chang-Seok; Kim, Jong-Won; Lee, Ran; Chae, Jong Hee JOURNAL OF KOREAN MEDICAL SCIENCE; Vol.25 1; 159-162	view file DOI
2010-02	Decreased Level and Defective Function of Circulating Endothelial Progenitor Cells in Children With Moyamoya Disease Kim, Jin Hyun; Jung, Ji-Hye; Kang, Hyun-Seung; Phi, Ji Hoon; Kim, Sang-Jeong; Kim, Young Yim; Wang, Kyu-Chang; Kim, Seung-Ki; Cho, Byung-Kyu; Kim, Young-Hoon; Chae, Jong Hee; Kim, Jeong Eun JOURNAL OF NEUROSCIENCE RESEARCH; Vol.88 3; 510-518	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	Glutaric Aciduria Type 1 in Korea: Report of Two Novel Mutations Park, June Dong; Lim, ByungChan; Hwang, Yong Seung; Kim, Ki Joong; Kang, Seong-Ho; Park, Sung Sup; Chae, Jong Hee; Lee, Joon Soo; Cho, Sung Im; Kim, Seung Ki JOURNAL OF KOREAN MEDICAL SCIENCE; Vol.25 6; 957-960	view file DOI
2010-06	Clinical and imaging findings of systemic hyalinosis: two cases presenting with congenital arthrogryposis Yoo, So-Young; Kim, Ji Hye; Kang, Ho Seok; Hwang, Yong Seung; Kim, In-One; Shin, Su-Mi; Lee, Jee Hun; Chae, Jong Hee; Lee, Mun Hyang; Kim, Chong Jai; Cheon, Jung-Eun; Kim, Ki Joong SKELETAL RADIOLOGY; Vol.39 6; 589-593	DOI
2010-06	Cerebellum Can Be a Possible Generator of Progressive Myoclonus Koh, Kyung Nam; Lim, Byung Chan; Hwang, Hee; Park, June Dong; Kim, Ki Joong; Kim, Seung-Ki; Moon, Han Ku; Wang, Kyu-Chang; Hwang, Yong-Seung; Chae, Jong Hee JOURNAL OF CHILD NEUROLOGY; Vol.25 6; 728-731	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
2010-07	Pediatric Moyamoya Disease: An Analysis of 410 Consecutive Cases Kim, Seung-Ki; Cho, Byung-Kyu; Phi, Ji Hoon; Lee, Ji Yeoun; Kim, Ki Joong; Kim, In-One; Lee, Joongyub; Wang, Kyu-Chang; Lee, Dong Soo; Hwang, Yong-Seung; Chae, Jong Hee ANNALS OF NEUROLOGY; Vol.68 1; 92-101	DOI
2010-08	Fukutin mutations in congenital muscular dystrophies with defective glycosylation of dystroglycan in Korea Lim, Bung Chan; Ki, Chang-Seok; Kim, Jong-Won; Cho, Anna; Hwang, Hee; Hwang, Yong Seung; Lim, Yun-Jung; Lee, Jun Su; Chae, Jong Hee; Kim, In One; Park, Woong Yang; Kim, Ki Joong; Kim, Min Jung NEUROMUSCULAR DISORDERS; Vol.20 8; 524-530	DOI
2010-08	Ischemic Stroke in a 7-Month-Old Infant With Antiphospholipid Antibody and Homozygous C677T Methylenetetrahydrofolate Reductase (MTHFR) Polymorphism Kim, Se Hee; Hwang, Hee; Chae, Jong Hee; Kim, Ki Joong; Lim, Byung Chan; Hwang, Yong Seung JOURNAL OF CHILD NEUROLOGY; Vol.25 8; 1047-1050	DOI
2013	New treatment strategies for infantile spasms: short course of vigabatrin with early switch 류혜원; 김헌민; 임병찬; 황희; 채종희; 최지은; 김기중; 황용승 Korean Epilepsy Congress 2013 abstract books, pp. 76-77
2014-02	Stroke in children: clinical analysis of 185 patients 정고운	view file
2017-02	psoclonus-Myoclonus-Ataxia Syndrome 환자의 임상 양상 및 치료 조재소	view file
2017-02	Clinical characteristics and mutation profiles of Collagen-VI related myopathy 김수연	view file
2018-02	Clinical characteristics and treatment outcome of childhood onset chronic inflammatory demyelinating polyneuropathy 김우중	view file
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
2020-03	Serum α-synuclein and IL-1β are increased and correlated with measures of disease severity in children with epilepsy: potential prognostic biomarkers? Choi, Jieun; Kim, Soo Yeon; Kim, Hunmin; Lim, Byung Chan; Hwang, Hee; Chae, Jong Hee; Kim, Ki Joong; Oh, Sohee; Kim, Eun Young; Shin, Jeon-Soo BMC Neurology, 20(1):85	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	Broad spectrum of phenotype and genotype in alpha dystroglycan related muscular dystrophy 고영준	view file link
2022	Clinical and Sociodemographic analysis, and Diagnostic Research of Undiagnosed Pediatric Patients Suspected to Have Genetic Disorders 김수연	view file link
2023	Systematic Analysis of Genetic Etiology in Pediatric Neurodevelopmental Disorders 박수진	view file link
2023	Targeted massive parallel sequencing and comprehensive phenome-genome assessment in neuromuscular patients without genetic etiology by conventional diagnostic methods 조안나	view file link