| 2001 | | Development of a Screening Kit for Early Diagnosis and Prevention of Wilson´s Disease
Journal of the Korean Pediatric Association, 44(12). : 1374-1380, 2001 | 김순남, 이수영, 장영주, 한시훈 |
| 2000 | | Connexin26 mutations associated with nonsyndromic hearing loss.
The Laryngoscope, 110(9). : 1535-1538, 2000 | 박기현, 박홍준, 전영명, 한시훈 |
| 2000 | | The first successful prenatal diagnosis on a Korean family with citrullinemia.
Molecules and cells, 10(6). : 692-694, 2000 | 한시훈 |
| 2000 | | Hepatocellular carcinoma despite long-term survival in chronic tyrosinaemia I.
Journal of inherited metabolic disease, 23(8). : 791-804, 2000 | 한시훈 |
| 2000 | | Mutation analysis of Korean patients with citrullinemia.
Molecules and cells, 10(4). : 465-468, 2000 | 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.
Human mutation, 16(2). : 180-181, 2000 | 한시훈 |
| 2000 | | Novel 67-bp insertional mutation in the ASS gene in a patient with citrullinemia.
Human mutation, 15(6). : 585-585, 2000 | 한시훈 |
| 1999 | | Very long chain acyl coenzyme A dehydrogenase deficiency in a 5-month-old Korean boy: identification of a novel mutation.
The Journal of pediatrics, 135(2Pt1). : 250-253, 1999 | 정조원, 한시훈, 홍창호 |
| 1999 | | Cloning and characterization of the promoter region of the Wilson disease gene.
Biochemical and biophysical research communications, 259(1). : 206-211, 1999 | 한시훈 |
| 1998 | | Extensive form of aplasia cutis congenita: a new syndrome?
Journal of medical genetics, 35(7). : 609-611, 1998 | 김행수, 박문성, 한시훈, 홍창호 |
| 1998 | | Identification of three novel mutations and a high frequency of the Arg778Leu mutation in Korean patients with Wilson disease.
Human mutation, 11(4). : 275-278, 1998 | 조성원, 한시훈 |
| 1997 | | A 5-nucleotide insertion in the antithrombin gene causing a quantitative antithrombin deficiency.
Thrombosis and haemostasis, 77(1). : 212-213, 1997 | 한시훈 |
| 1995 | | Monoaminergic effects of folinic acid, L-DOPA, and 5-hydroxytryptophan in dihydropteridine reductase deficiency.
Journal of neurochemistry, 64(6). : 2810-2813, 1995 | 한시훈 |
| 1995 | | Heterozygosity for an exon 12 splicing mutation and a W234G missense mutation in an American child with chronic tyrosinemia type 1.
Human mutation, 6(1). : 66-73, 1995 | 한시훈 |
| 1994 | | Metallothionein synthesis and degradation in Indian childhood cirrhosis fibroblasts.
Pediatric research, 35(2). : 197-204, 1994 | 한시훈 |
