Park SS - Search Results

1

Accuracy and Performance Evaluation of Triplet Repeat Primed PCR as an Alternative to Conventional Diagnostic Methods for Fragile X Syndrome.

Gu H, Kim MJ, Yang D, Song JY, Cho SI, Park SS, Seong MW. Gu H, et al. Among authors: park ss. Ann Lab Med. 2021 Jul 1;41(4):394-400. doi: 10.3343/alm.2021.41.4.394. Ann Lab Med. 2021. PMID: 33536358 Free PMC article.

2

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.

3

Molecular and clinical characteristics of myotonic dystrophy type 1 in koreans.

Kim SY, Kim JY, Kim GP, Sung JJ, Lim KS, Lee KW, Chae JH, Hong YH, Seong MW, Park SS. Kim SY, et al. Among authors: park ss. Korean J Lab Med. 2008 Dec;28(6):483-92. doi: 10.3343/kjlm.2008.28.6.483. Korean J Lab Med. 2008. PMID: 19127114

4

LCA5, a rare genetic cause 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. Ophthalmic Genet. 2009 Mar;30(1):54-5. doi: 10.1080/13816810802592567. Ophthalmic Genet. 2009. PMID: 19172513

5

Ophthalmoplegia diagnosis.

Hwang JM, Choung HK, Ko HS, Seong MW, Kim JY, Park SS. Hwang JM, et al. Among authors: park ss. Ophthalmology. 2009 Apr;116(4):813-4, 814.e1-2. doi: 10.1016/j.ophtha.2008.12.006. Ophthalmology. 2009. PMID: 19344829 No abstract available.

6

Molecular genetic characteristics of X-linked retinoschisis in Koreans.

Kim SY, Ko HS, Yu YS, Hwang JM, Lee JJ, Kim SY, Kim JY, Seong MW, Park KH, Park SS. Kim SY, et al. Among authors: park ss, park kh. Mol Vis. 2009;15:833-43. Epub 2009 Apr 23. Mol Vis. 2009. PMID: 19390641 Free PMC article.

7

Efficient molecular genetic diagnosis of enlarged vestibular aqueducts in East Asians.

Choi BY, Stewart AK, Nishimura KK, Cha WJ, Seong MW, Park SS, Kim SW, Chun YS, Chung JW, Park SN, Chang SO, Kim CS, Alper SL, Griffith AJ, Oh SH. Choi BY, et al. Among authors: park ss, park sn. Genet Test Mol Biomarkers. 2009 Oct;13(5):679-87. doi: 10.1089/gtmb.2009.0054. Genet Test Mol Biomarkers. 2009. PMID: 19645628 Free PMC article.

8

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

9

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

10

Screening for MAPT and PGRN mutations in Korean patients with PSP/CBS/FTD.

Kim HJ, Jeon BS, Yun JY, Seong MW, Park SS, Lee JY. Kim HJ, et al. Among authors: park ss. Parkinsonism Relat Disord. 2010 May;16(4):305-6. doi: 10.1016/j.parkreldis.2010.01.004. Epub 2010 Feb 19. Parkinsonism Relat Disord. 2010. PMID: 20171924 No abstract available.

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