Han SH - Search Results

1

A novel mutation (A148V) in the glucose 6-phosphate translocase (SLC37A4) gene in a Korean patient with glycogen storage disease type 1b.

Han SH, Ki CS, Lee JE, Hong YJ, Son BK, Lee KH, Choe YH, Lee SY, Kim JW. Han SH, et al. J Korean Med Sci. 2005 Jun;20(3):499-501. doi: 10.3346/jkms.2005.20.3.499. J Korean Med Sci. 2005. PMID: 15953877 Free PMC article.

2

A Population-Based Analysis of BRCA1/2 Genes and Associated Breast and Ovarian Cancer Risk in Korean Patients: A Multicenter Cohort Study.

Park KS, Lee W, Seong MW, Kong SY, Lee KA, Ha JS, Cho EH, Han SH, Park I, Kim JW. Park KS, et al. Among authors: han sh. Cancers (Basel). 2021 May 2;13(9):2192. doi: 10.3390/cancers13092192. Cancers (Basel). 2021. PMID: 34063308 Free PMC article.

3

Screening of subtelomeric rearrangements in 100 Korean Pediatric patients with unexplained mental retardation and anomalies using subtelomeric FISH (fluorescence in situ hybridization).

Park HK, Kim HJ, Kim HJ, Han SH, Kim YJ, Kim SH. Park HK, et al. Among authors: han sh. J Korean Med Sci. 2008 Aug;23(4):573-8. doi: 10.3346/jkms.2008.23.4.573. J Korean Med Sci. 2008. PMID: 18756040 Free PMC article.

4

Mutation analysis of the APC gene in unrelated Korean patients with FAP: four novel mutations with unusual phenotype.

Han SH, Ryu JS, Kim YJ, Cho HI, Yang YH, Lee KR. Han SH, et al. Fam Cancer. 2011 Mar;10(1):21-6. doi: 10.1007/s10689-010-9363-4. Fam Cancer. 2011. PMID: 21110124

5

A novel mutation in the ABCD1 gene of a Korean boy diagnosed with X-linked adrenoleukodystrophy.

Park JA, Jun KR, Han SH, Kim GH, Yoo HW, Hur YJ. Park JA, et al. Among authors: han sh. Gene. 2012 Apr 25;498(1):131-3. doi: 10.1016/j.gene.2012.01.063. Epub 2012 Feb 1. Gene. 2012. PMID: 22326269

6

Identification of BRCA1 and BRCA2 mutations from Korean breast cancer patients using denaturing HPLC.

Kim BY, Lee DG, Lee KR, Han SH, Surendran S, Han CW, Chung N. Kim BY, et al. Among authors: han sh, han cw. Biochem Biophys Res Commun. 2006 Oct 20;349(2):604-10. doi: 10.1016/j.bbrc.2006.08.086. Epub 2006 Aug 24. Biochem Biophys Res Commun. 2006. PMID: 16949048

7

Carrier frequency of GJB2 (connexin-26) mutations causing inherited deafness in the Korean population.

Han SH, Park HJ, Kang EJ, Ryu JS, Lee A, Yang YH, Lee KR. Han SH, et al. J Hum Genet. 2008;53(11-12):1022-1028. doi: 10.1007/s10038-008-0342-7. Epub 2008 Dec 2. J Hum Genet. 2008. PMID: 19043807

8

Identification of a novel HLA-B*54 allele, HLA-B*54:01:08, in a Korean individual.

Han SH, Kwon OJ, Heo YA, Hwang SY. Han SH, et al. HLA. 2020 Jul;96(1):98-99. doi: 10.1111/tan.13833. Epub 2020 Feb 14. HLA. 2020. PMID: 32034888

9

Clinical and cytogenetic findings on 31,615 mid-trimester amniocenteses.

Han SH, An JW, Jeong GY, Yoon HR, Lee A, Yang YH, Lee KP, Lee KR. Han SH, et al. Korean J Lab Med. 2008 Oct;28(5):378-85. doi: 10.3343/kjlm.2008.28.5.378. Korean J Lab Med. 2008. PMID: 18971619

10

Identification of a novel HLA-C*03:04 allele, HLA-C*03:04:84, in a Korean individual.

Park SJ, Kwon OJ, Heo YA, Lee KA, Han SH. Park SJ, et al. Among authors: han sh. HLA. 2021 Feb;97(2):156-158. doi: 10.1111/tan.14139. Epub 2020 Nov 25. HLA. 2021. PMID: 33191648

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