Identification of de novo BSCL2 ser90leu mutation in a korean family with sukver syndrome and distal hereditary motor neuropathyCHO, Hyun-Jung; SUNG, Duk-Hyun; KI, Chang-Seok et al.Muscle & nerve. 2007, Vol 36, Num 3, pp 384-386, issn 0148-639X, 3 p.Article

Rapid detection and identification of 12 respiratory viruses using a dual priming oligonucleotide system-based multiplex PCR assaySUK RAN KIM; KI, Chang-Seok; NAM YONG LEE et al.Journal of virological methods. 2009, Vol 156, Num 1-2, issn 0166-0934, 111-116 [6 p.]Article

UGT1A7 haplotype is associated with an increased risk of hepatocellular carcinoma in hepatitis B carriersKONG, Sun-Young; KI, Chang-Seok; BYUNG CHUL YOO et al.Cancer science. 2008, Vol 99, Num 2, pp 340-344, issn 1347-9032, 5 p.Article

Alpha-1 antichymotrypsin and alpha-2 macroglobulin gene polymorphisms are not associated with Korean late-onset Alzheimer's diseaseKI, Chang-Seok; DUK LYUL NA; HYE JIN KIM et al.Neuroscience letters. 2001, Vol 302, Num 2-3, pp 69-72, issn 0304-3940Article

Catheter-related bloodstream infection by Lindnera fabianii in a neutropenic patientJAE WON YUN; KYUNG SUN PARK; KI, Chang-Seok et al.Journal of medical microbiology. 2013, Vol 62, Num 6, pp 922-925, issn 0022-2615, 4 p.Article

CLINICAL AND GENETIC ANALYSIS OF KOREAN PATIENTS WITH CONGENITAL INSENSITIVITY TO PAIN WITH ANHIDROSISLEE, Seung-Tae; LEE, Jeehun; LEE, Munhyang et al.Muscle & nerve. 2009, Vol 40, Num 5, pp 855-859, issn 0148-639X, 5 p.Article

Fibrillin-1 gene analysis of korean patients with spontaneous CSF hypovolemiaCHUNG, Sun J; KI, Chang-Seok; LEE, Myoung C et al.Headache. 2007, Vol 47, Num 1, pp 111-115, issn 0017-8748, 5 p.Article

Isobutyryl-CoA dehydrogenase deficiency with a novel ACAD8 gene mutation detected by tandem mass spectrometry newborn screeningYOO, Eun-Hyung; CHO, Hyun-Jung; KI, Chang-Seok et al.Clinical chemistry and laboratory medicine. 2007, Vol 45, Num 11, pp 1495-1497, issn 1434-6621, 3 p.Article

Clinical features and gene analysis in korean patients with early-onset parkinson diseaseEUN JOO CHUNG; KI, Chang-Seok; WON YONG LEE et al.Archives of neurology (Chicago). 2006, Vol 63, Num 8, pp 1170-1174, issn 0003-9942, 5 p.Article

Genetic association of an apolipoprotein C-I (APOC1) gene polymorphism with late-onset Alzheimer's diseaseKI, Chang-Seok; DUK LYUL NA; DOH KWAN KIM et al.Neuroscience letters. 2002, Vol 319, Num 2, pp 75-78, issn 0304-3940Article

Novel PANK2 Gene Mutations in Korean Patient with Pantothenate Kinase-Associated Neurodegeneration Presenting Unilateral Dystonic TremorWON TAE YOON; WON YONG LEE; SHIN, Hee-Young et al.Movement disorders. 2010, Vol 25, Num 2, pp 245-247, issn 0885-3185, 3 p.Article

NRAMP1 gene polymorphism and susceptibility to nontuberculous mycobacterial lung diseasesKOH, Won-Jung; JUNG KWON, O; EUN JOO KIM et al.Chest. 2005, Vol 128, Num 1, pp 94-101, issn 0012-3692, 8 p.Article

A Novel Exon 3 Mutation (P66S) in the SOD1 Gene in Familial ALSBAEK, Wonki; KOH, Seong-Ho; YOUNG SEO KIM et al.Canadian journal of neurological sciences. 2012, Vol 39, Num 2, pp 245-246, issn 0317-1671, 2 p.Article

A novel PHKA2 gross deletion mutation in a Korean patient with X-linked liver glycogenosis type IPARK, Kyoung-Jin; PARK, Hyung-Doo; LEE, Soo-Youn et al.Annals of clinical and laboratory science. 2011, Vol 41, Num 2, pp 197-200, issn 0091-7370, 4 p.Article

Evaluation of Cobas TaqMan MTB PCR for Detection of Mycobacterium tuberculosisJEONG HYUN KIM; YOUNG JAE KIM; KI, Chang-Seok et al.Journal of clinical microbiology (Print). 2011, Vol 49, Num 1, pp 173-176, issn 0095-1137, 4 p.Article

Multiplex Ligation-Dependent Probe Amplification (MLPA) Assay for the Detection of Mitochondrial DNA Deletion in Chronic Progressive External Ophthalmoplegia (CPEO)KWON, Min-Jung; KI, Chang-Seok; KIM, Ji-Youn et al.Annals of clinical and laboratory science. 2011, Vol 41, Num 4, pp 385-389, issn 0091-7370, 5 p.Article

Multiplex ligation-dependent probe amplification screening of isolated increased HbF levels revealed three cases of novel rearrangements/deletions in the β-globin gene clusterLEE, Seung-Tae; YOO, Eun-Hyung; KIM, Ji-Youn et al.British journal of haematology. 2010, Vol 148, Num 1, pp 154-160, issn 0007-1048, 7 p.Article

Clinical and genetic analysis of a Korean patient with Fukuyama congenital muscular dystrophyLEE, Jeehun; BO LYUN LEE; LEE, Munhyang et al.Journal of the neurological sciences. 2009, Vol 281, Num 1-2, pp 122-124, issn 0022-510X, 3 p.Article

A Korean Parkinson's Disease Family with the LRRK2 p.Tyr1699Cys Mutation Showing Clinical HeterogeneityJI SUN KIM; JIN WHAN CHO; SHIN, Hyeeun et al.Movement disorders. 2012, Vol 27, Num 2, pp 320-324, issn 0885-3185, 5 p.Article

A Novel PANK2 Gene Mutation with Sudden- Onset DystoniaKIM, Jisun; SHIN, Hyeeun; YOUN, Jinyoung et al.Canadian journal of neurological sciences. 2012, Vol 39, Num 3, pp 395-397, issn 0317-1671, 3 p.Article

Characteristics of neurological Wilson's disease without Kayser―Fleischer ringYOUN, Jinyoung; JI SUN KIM; KIM, Hee-Tae et al.Journal of the neurological sciences. 2012, Vol 323, Num 1-2, pp 183-186, issn 0022-510X, 4 p.Article

Association of ATP7BMutation Detection Rate with Biochemical Characteristics in Korean Patients with Wilson DiseasePARK, Hyung-Doo; PARK, Hyun-Kyung; CHUNG, Hae-Sun et al.Annals of clinical and laboratory science. 2010, Vol 40, Num 1, pp 15-25, issn 0091-7370, 11 p.Article

Little evidence for association of the glaucoma gene MYOC with open-angle glaucomaSOHN, Seongsoo; HUR, Wonhee; YOUNG RAN CHOI et al.British journal of ophthalmology. 2010, Vol 94, Num 5, pp 639-642, issn 0007-1161, 4 p.Article

Effects of 7 Hemoglobin Variants on the Measurement of Glycohemoglobin by 14 Analytical MethodsLEE, Seung-Tae; WEYKAMP, Cas W; LEE, Yong-Wha et al.Clinical chemistry (Baltimore, Md.). 2007, Vol 53, Num 12, pp 2202-2205, issn 0009-9147, 4 p.Article

Clinical and Genetic Analysis of Korean Patients with Cornelia de Lange Syndrome: Two Novel NIPBL MutationsPARK, Hyung-Doo; KI, Chang-Seok; KIM, Jong-Won et al.Annals of clinical and laboratory science. 2010, Vol 40, Num 1, pp 20-25, issn 0091-7370, 6 p.Article