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Showing results 1 to 42 of 42

Issue DateTitle / Author(s) / CitationFileAltmetrics
1990-03
A Case of Erythrophagocytosis in a T-cell Lymphoblastic Lymphoma

Kim, Ki Joong; Jeon, In Sang; Kim, Chul Woo; Ahn, Hyo Seop

Seoul J Med, Vol.31 No.1, pp. 57-60

view file
2002
Leukodystrophy in children: a pictorial review of MR imaging features
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
2005-04
Surgical outcome of epilepsy caused by cortical dysplasia

Chung, Chun Kee; Lee, Sang Kun; Kim, Ki Joong

Epilepsia. 2005;46 Suppl 1:25-9.

link
2006-03
Familial occurrence of moyamoya disease: a clinical study

Seol, Ho Jun; Wang, Kyu-Chang; Kim, Seung-Ki; Hwang, Yong-Seung; Kim, Ki Joong; Cho, Byung-Kyu

Childs Nerv Syst. 2006 Sep;22(9):1143-8. Epub 2006 Mar 25.

link
2007-11
Identification of a novel DHCR7 mutation in a Korean patient with Smith-Lemli-Opitz syndrome

Chae, Jong Hee; Kim, Ki Joong; Hwang, Yong Seung; Ki, Chang-Seok; Kim, Jong-Won

J Child Neurol. 2007 Nov;22(11):1297-300.

link
2007-12
Biochemical and genetic analysis of Leigh syndrome patients in Korea
link
2008-03
New antiepileptic drugs in pediatric epilepsy

Hwang, Hee; Kim, Ki Joong

Brain Dev. 2008;30(9):549-555

link
2008-08
Merosin-deficient congenital muscular dystrophy in Korea
link
2009-05
Merosin-deficient congenital muscular dystrophy in Korea
DOI
2009-07
Mutations in ND Subunits of Complex I Are an Important Genetic Cause of Childhood Mitochondrial Encephalopathies
DOI
2009-12
Long-Term Surgical Outcomes of Temporal Lobe Epilepsy Associated With Low-Grade Brain Tumors
DOI
2010-04
Andersen Cardiodysrhythmic Periodic Paralysis With KCNJ2 Mutations: A Novel Mutation in the Pore Selectivity Filter Residue
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
Cerebellum Can Be a Possible Generator of Progressive Myoclonus
DOI
2010-06
A 13-YEAR-OLD GIRL WITH PROXIMAL WEAKNESS AND HYPERTROPHIC CARDIOMYOPATHY WITH DANON DISEASE
DOI
2010-06
Glutaric Aciduria Type 1 in Korea: Report of Two Novel Mutations
view fileDOI
2010-06
Clinical and imaging findings of systemic hyalinosis: two cases presenting with congenital arthrogryposis
DOI
2010-07
Pediatric Moyamoya Disease: An Analysis of 410 Consecutive Cases
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
2010-08
Fukutin mutations in congenital muscular dystrophies with defective glycosylation of dystroglycan in Korea
DOI
2012-10
Characteristics of patients with epilepsy who use a website providing healthcare information about epilepsy in South Korea
DOI
2013-09
A Case of Japanese Encephalitis Presenting with Fever and Seizure in a 7-month old Infant
view file
2017-05
CONSECUTIVE ANALYSIS OF MUTATION SPECTRUM IN THE DYSTROPHIN GENE OF 507 KOREAN BOYS WITH DUCHENNE/BECKER MUSCULAR DYSTROPHY IN A SINGLE CENTER
DOI
2019-03
The Korean undiagnosed diseases program: lessons from a one-year pilot project
view fileDOI
2019-05
Association of tumor necrosis factor-α gene promotor variant, not interleukin-10, with febrile seizures and genetic epilepsy with febrile seizure plus
DOI
2019-09
Chronic inflammatory demyelinating polyneuropathy: Plasmapheresis or cyclosporine can be good treatment options in refractory cases
DOI
2019-10
Elevated Serum Uric Acid in Benign Convulsions with Mild Gastroenteritis in Children
DOI
2019-10
Association Analysis of Interleukin-1 beta, Interleukin-6, and HMGB1 Variants with Postictal Serum Cytokine Levels in Children with Febrile Seizure and Generalized Epilepsy with Febrile Seizure Plus
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
DOI
2020-01
Clinical and Genetic Spectrum of ATP1A3-Related Disorders in a Korean Pediatric Population
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?
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?
view fileDOI
2020-12
Spectrum of movement disorders in GNAO1 encephalopathy: in-depth phenotyping and case-by-case analysis
view filelink
2022-01
Clinico-radiological characteristics of anti-myelin oligodendrocyte glycoprotein antibody-associated autoimmune encephalitis in children
DOI
2022-07
Whole genomic approach in mutation discovery of infantile spasms patients
DOI
2022-08
Fatal systemic disorder caused by biallelic variants in FARSA
DOI
2022-08
Fatal systemic disorder caused by biallelic variants in FARSA
view filelink
2022-09
Systematic analysis of inheritance pattern determination in genes that cause rare neurodevelopmental diseases
DOI
2022-10
The Korean undiagnosed diseases program phase I: expansion of the nationwide network and the development of long-term infrastructure
DOI
2022-11
Clinical outcomes of pediatric cerebral cavernous malformation: an analysis of 124 consecutive cases
DOI
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