Browsing by Ajou Author

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한, 시훈 Not currently indexed
[School of Medicine / Graduate School of Medicine] - [Pediatrics & Adolescent Medicine]

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Showing results 1 to 15 of 15

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Pub YearTitleAJOU Author(s)
2001Development of a Screening Kit for Early Diagnosis and Prevention of Wilson´s Disease김순남, 이수영, 장영주, 한시훈
2000Connexin26 mutations associated with nonsyndromic hearing loss.박기현, 박홍준, 전영명, 한시훈
2000The first successful prenatal diagnosis on a Korean family with citrullinemia.한시훈
2000Hepatocellular carcinoma despite long-term survival in chronic tyrosinaemia I.한시훈
2000Mutation analysis of Korean patients with citrullinemia.한시훈
2000A novel mutation in the beta-hexosaminidase beta-subunit gene in a 14-month-old Korean boy with Sandhoff disease: first reported Korean case.한시훈
2000Novel 67-bp insertional mutation in the ASS gene in a patient with citrullinemia.한시훈
1999Very long chain acyl coenzyme A dehydrogenase deficiency in a 5-month-old Korean boy: identification of a novel mutation.정조원, 한시훈, 홍창호
1999Cloning and characterization of the promoter region of the Wilson disease gene.한시훈
1998Extensive form of aplasia cutis congenita: a new syndrome?김행수, 박문성, 한시훈, 홍창호
1998Identification of three novel mutations and a high frequency of the Arg778Leu mutation in Korean patients with Wilson disease.조성원, 한시훈
1997A 5-nucleotide insertion in the antithrombin gene causing a quantitative antithrombin deficiency.한시훈
1995Monoaminergic effects of folinic acid, L-DOPA, and 5-hydroxytryptophan in dihydropteridine reductase deficiency.한시훈
1995Heterozygosity for an exon 12 splicing mutation and a W234G missense mutation in an American child with chronic tyrosinemia type 1.한시훈
1994Metallothionein synthesis and degradation in Indian childhood cirrhosis fibroblasts.한시훈
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