Park SS - Search Results

1

Autosomal recessive multiple epiphyseal dysplasia in a Korean girl caused by novel compound heterozygous mutations in the DTDST (SLC26A2) gene.

Cho TJ, Kim OH, Lee HR, Shin SJ, Yoo WJ, Park WY, Park SS, Cho SI, Choi IH. Cho TJ, et al. Among authors: park ss, park wy. J Korean Med Sci. 2010 Jul;25(7):1105-8. doi: 10.3346/jkms.2010.25.7.1105. Epub 2010 Jun 16. J Korean Med Sci. 2010. PMID: 20592910 Free PMC article.

2

Leber's hereditary optic neuropathy with 3460 mitochondrial DNA mutation.

Hwang JM, Chang BL, Koh HJ, Kim JY, Park SS. Hwang JM, et al. Among authors: park ss. J Korean Med Sci. 2002 Apr;17(2):283-6. doi: 10.3346/jkms.2002.17.2.283. J Korean Med Sci. 2002. PMID: 11961321 Free PMC article.

3

Beta-thalassemia in the Korean population.

Park SS, Lee YJ, Kim JY, Joo SI, Hattori Y, Ohba Y, Cho HI. Park SS, et al. Hemoglobin. 2002 May;26(2):135-45. doi: 10.1081/hem-120005451. Hemoglobin. 2002. PMID: 12144056

4

RFLP haplotypes of beta-globin gene complex of beta-thalassemic chromosomes in Koreans.

Lee YJ, Park SS, Kim JY, Cho HI. Lee YJ, et al. Among authors: park ss. J Korean Med Sci. 2002 Aug;17(4):475-8. doi: 10.3346/jkms.2002.17.4.475. J Korean Med Sci. 2002. PMID: 12172041 Free PMC article.

5

Neonatal intrahepatic cholestasis caused by citrin deficiency in Korean infants.

Ko JS, Song JH, Park SS, Seo JK. Ko JS, et al. Among authors: park ss. J Korean Med Sci. 2007 Dec;22(6):952-6. doi: 10.3346/jkms.2007.22.6.952. J Korean Med Sci. 2007. PMID: 18162705 Free PMC article.

6

Molecular characterization of Leber congenital amaurosis in Koreans.

Seong MW, Kim SY, Yu YS, Hwang JM, Kim JY, Park SS. Seong MW, et al. Among authors: park ss. Mol Vis. 2008 Aug 4;14:1429-36. Mol Vis. 2008. PMID: 18682808 Free PMC article.

7

False homozygous deletions of SMN1 exon 7 using Dra I PCR-RFLP caused by a novel mutation in spinal muscular atrophy.

Kang SH, Cho SI, Chae JH, Chung KN, Ra EK, Kim SY, Seong MW, Kim JY, Park SS. Kang SH, et al. Among authors: park ss. Genet Test Mol Biomarkers. 2009 Aug;13(4):511-3. doi: 10.1089/gtmb.2008.0158. Genet Test Mol Biomarkers. 2009. PMID: 19663601

8

Low contribution of BRCA1/2 genomic rearrangement to high-risk breast cancer in the Korean population.

Seong MW, Cho SI, Noh DY, Han W, Kim SW, Park CM, Park HW, Kim SY, Kim JY, Park SS. Seong MW, et al. Among authors: park ss, park hw, park cm. Fam Cancer. 2009;8(4):505-8. doi: 10.1007/s10689-009-9279-z. Epub 2009 Aug 8. Fam Cancer. 2009. PMID: 19669600

9

A variant of Desbuquois dysplasia characterized by advanced carpal bone age, short metacarpals, and elongated phalanges: report of seven cases.

Kim OH, Nishimura G, Song HR, Matsui Y, Sakazume S, Yamada M, Narumi Y, Alanay Y, Unger S, Cho TJ, Park SS, Ikegawa S, Meinecke P, Superti-Furga A. Kim OH, et al. Among authors: park ss. Am J Med Genet A. 2010 Apr;152A(4):875-85. doi: 10.1002/ajmg.a.33347. Am J Med Genet A. 2010. PMID: 20358597

10

Molecular characterization of the NF2 gene in Korean patients with neurofibromatosis type 2: a report of four novel mutations.

Seong MW, Yeo IK, Cho SI, Park CK, Kim SK, Paek SH, Kim DG, Jung HW, Park H, Kim SY, Kim JY, Park SS. Seong MW, et al. Among authors: park ss, park ck, park h. Korean J Lab Med. 2010 Apr;30(2):190-4. doi: 10.3343/kjlm.2010.30.2.190. Korean J Lab Med. 2010. PMID: 20445339

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