Browsing by AJOU Author : 한시훈
Showing results 1 to 17 of 17
Pub Year | | Title | AJOU Author(s) |
1997 | | A 5-nucleotide insertion in the antithrombin gene causing a quantitative antithrombin deficiency. | 한시훈 |
2000 | | A novel mutation in the beta-hexosaminidase beta-subunit gene in a 14-month-old Korean boy with Sandhoff disease: first reported Korean case. | 한시훈 |
1999 | | Cloning and characterization of the promoter region of the Wilson disease gene. | 한시훈 |
2000 | | Connexin26 mutations associated with nonsyndromic hearing loss. | 박기현, 박홍준, 전영명, 한시훈 |
2001 | | Development of a Screening Kit for Early Diagnosis and Prevention of Wilson´s Disease | 김순남, 이수영, 장영주, 한시훈 |
1998 | | Extensive form of aplasia cutis congenita: a new syndrome? | 김행수, 박문성, 한시훈, 홍창호 |
2000 | | Hepatocellular carcinoma despite long-term survival in chronic tyrosinaemia I. | 한시훈 |
1995 | | Heterozygosity for an exon 12 splicing mutation and a W234G missense mutation in an American child with chronic tyrosinemia type 1. | 한시훈 |
1998 | | Identification of three novel mutations and a high frequency of the Arg778Leu mutation in Korean patients with Wilson disease. | 조성원, 한시훈 |
1994 | | Metallothionein synthesis and degradation in Indian childhood cirrhosis fibroblasts. | 한시훈 |
1995 | | Monoaminergic effects of folinic acid, L-DOPA, and 5-hydroxytryptophan in dihydropteridine reductase deficiency. | 한시훈 |
2000 | | Mutation analysis of Korean patients with citrullinemia. | 한시훈 |
2000 | | Novel 67-bp insertional mutation in the ASS gene in a patient with citrullinemia. | 한시훈 |
2000 | | The first successful prenatal diagnosis on a Korean family with citrullinemia. | 한시훈 |
1999 | | Very long chain acyl coenzyme A dehydrogenase deficiency in a 5-month-old Korean boy: identification of a novel mutation. | 정조원, 한시훈, 홍창호 |
1999 | | 구리대사 이상질환의 분자유전특성연구 | 한시훈 |
1999 | | 월슨씨병 질환자의 분자유전 특성연구 | 한시훈 |
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