ScholarWorks@SUNGKYUNKWAN UNIVERSITY

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Results 1-10 of 18 (Search time: 0.071 seconds).

SCIESCOPUS
Case report: A novel mutation in the MECP2 gene in a Korean patient with Rett syndrome

Lee E.Y.[Lee E.Y.]; Chung H.-J.[Chung H.-J.]; Ki C.-S.[Ki C.-S.]; Yoo J.-H.[Yoo J.-H.]; Choi J.R.[Choi J.R.]

ArticleIssue Date2011CitationAnnals of Clinical and Laboratory Science, v.41, no.1, pp.93 - 96
SCIESCOPUS
Three Korean patients with maple syrup urine disease: Four novel mutations in the BCKDHA gene

Park H.-D.[Park H.-D.]; Lee D.H.[Lee D.H.]; Hong Y.H.[Hong Y.H.]; Kang D.H.[Kang D.H.]; Lee Y.K.[Lee Y.K.]; Song J.[Song J.]; Lee S.-Y.[Lee S.-Y.]; Kim J.-W.[Kim J.-W.]; Ki C.-S.[Ki C.-S.]; Lee Y.-W.[Lee Y.-W.]

ArticleIssue Date2011CitationAnnals of Clinical and Laboratory Science, v.41, no.2, pp.167 - 173
SCIESCOPUS
SLC22A5 mutations in a patient with systemic primary carnitine deficiency: The first Korean case confirmed by biochemical and molecular investigation

Yoon Y.A.[Yoon Y.A.]; Lee D.H.[Lee D.H.]; Ki C.-S.[Ki C.-S.]; Lee S.-Y.[Lee S.-Y.]; Kim J.-W.[Kim J.-W.]; Lee Y.-W.[Lee Y.-W.]; Park H.-D.[Park H.-D.]

ArticleIssue Date2012CitationAnnals of Clinical and Laboratory Science, v.42, no.4, pp.424 - 428
SCIESCOPUS
Multiplex ligation-dependent probe amplification (MLPA) assay for the detection of mitochondrial DNA deletion in chronic progressive external ophthalmoplegia (CPEO)

Kwon M.-J.[Kwon M.-J.]; Ki C.-S.[Ki C.-S.]; Kim J.-Y.[Kim J.-Y.]; Lee S.-T.[Lee S.-T.]; Kim J.-W.[Kim J.-W.]; Kang S.-Y.[Kang S.-Y.]

ArticleIssue Date2011CitationAnnals of Clinical and Laboratory Science, v.41, no.4, pp.385 - 389
SCIESCOPUS
SLC22A5 mutations in a patient with systemic primary carnitine deficiency: The first Korean case confirmed by biochemical and molecular investigation

Yoon Y.A.[Yoon Y.A.]; Lee D.H.[Lee D.H.]; Ki C.-S.[Ki C.-S.]; Lee S.-Y.[Lee S.-Y.]; Kim J.-W.[Kim J.-W.]; Lee Y.-W.[Lee Y.-W.]; Park H.-D.[Park H.-D.]

ArticleIssue Date2012CitationAnnals of Clinical and Laboratory Science, v.42, no.4, pp.422 - 423
SCIESCOPUS
A Korean patient with Morquio B disease with a novel c.13_14insA mutation in the GLB1 gene

Sohn Y.B.[Sohn Y.B.]; Park H.-D.[Park H.-D.]; Park S.W.[Park S.W.]; Kim S.-H.[Kim S.-H.]; Cho S.-Y.[Cho S.-Y.]; Ko A.-R.[Ko A.-R.]; Ki C.-S.[Ki C.-S.]; Yeau S.[Yeau S.]; Jin D.-K.[Jin D.-K.]

ArticleIssue Date2012CitationAnnals of Clinical and Laboratory Science, v.42, no.1, pp.89 - 93
SCIESCOPUS
Acute myeloid leukemia with complex hypodiploidy and loss of heterozygosity of 17p in a boy with fanconi anemia

Woo H.I.[Woo H.I.]; Kim H.-J.[Kim H.-J.]; Lee S.H.[Lee S.H.]; Yoo K.H.[Yoo K.H.]; Koo H.H.[Koo H.H.]; Kim S.-H.[Kim S.-H.]

ArticleIssue Date2011CitationAnnals of Clinical and Laboratory Science, v.41, no.1, pp.66 - 70
SCIESCOPUS
A Gly1609Arg missense mutation in the vwf gene in a korean patient with von Willebrand disease type 2A

Choi S.J.[Choi S.J.]; Lee E.-Y.[Lee E.-Y.]; Kim H.-J.[Kim H.-J.]; Lee K.-A.[Lee K.-A.]; Song J.[Song J.]; Choi J.-R.[Choi J.-R.]; Yoo J.-H.[Yoo J.-H.]

ArticleIssue Date2012CitationAnnals of Clinical and Laboratory Science, v.42, no.1, pp.98 - 102
SCIESCOPUS
A korean patient with glutaric aciduria type 1 with a novel mutation in the glutaryl CoA dehydrogenase gene

Kim H.S.[Kim H.S.]; Yu H.J.[Yu H.J.]; Lee J.[Lee J.]; Park H.-D.[Park H.-D.]; Kim J.H.[Kim J.H.]; Shin H.-J.[Shin H.-J.]; Jin D.K.[Jin D.K.]; Lee M.[Lee M.]

ArticleIssue Date2014CitationAnnals of Clinical and Laboratory Science, v.44, no.2, pp.213 - 216
SCIESCOPUS
Case report: A heparin binding site Arg79Cys missense mutation in the SERPINC1 gene in a Korean patient with hereditary antithrombin deficiency

Yoo J.-H.[Yoo J.-H.]; Maeng H.-Y.[Maeng H.-Y.]; Kim H.-J.[Kim H.-J.]; Lee K.-A.[Lee K.-A.]; Choi J.-R.[Choi J.-R.]; Song J.[Song J.]

ArticleIssue Date2011CitationAnnals of Clinical and Laboratory Science, v.41, no.1, pp.89 - 92
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