Ki CS - Search Results

1

Identification of a Novel De Novo Variant in the PAX3 Gene in Waardenburg Syndrome by Diagnostic Exome Sequencing: The First Molecular Diagnosis in Korea.

Jang MA, Lee T, Lee J, Cho EH, Ki CS. Jang MA, et al. Among authors: ki cs. Ann Lab Med. 2015 May;35(3):362-5. doi: 10.3343/alm.2015.35.3.362. Epub 2015 Apr 1. Ann Lab Med. 2015. PMID: 25932447 Free PMC article.

2

A novel mutation W252X in the WAS gene in a Korean patient with Wiskott-Aldrich syndrome.

Kim HJ, Yoo EH, Ki CS, Yoo GH, Koo HH, Kim JW, Kim SH. Kim HJ, et al. Among authors: ki cs. Int J Hematol. 2006 Jun;83(5):426-8. doi: 10.1532/IJH97.A30513. Int J Hematol. 2006. PMID: 16787874

3

Clinical and genetic analysis of Korean patients with Miyoshi myopathy: identification of three novel mutations in the DYSF gene.

Cho HJ, Sung DH, Kim EJ, Yoon CH, Ki CS, Kim JW. Cho HJ, et al. Among authors: ki cs. J Korean Med Sci. 2006 Aug;21(4):724-7. doi: 10.3346/jkms.2006.21.4.724. J Korean Med Sci. 2006. PMID: 16891820 Free PMC article.

4

X-linked Opitz G/BBB syndrome: identification of a novel mutation and prenatal diagnosis in a Korean family.

Cho HJ, Shin MY, Ahn KM, Lee SI, Kim HJ, Ki CS, Kim JW. Cho HJ, et al. Among authors: ki cs. J Korean Med Sci. 2006 Oct;21(5):790-3. doi: 10.3346/jkms.2006.21.5.790. J Korean Med Sci. 2006. PMID: 17043407 Free PMC article.

5

Identification of de novo BSCL2 Ser90Leu mutation in a Korean family with Silver syndrome and distal hereditary motor neuropathy.

Cho HJ, Sung DH, Ki CS. Cho HJ, et al. Among authors: ki cs. Muscle Nerve. 2007 Sep;36(3):384-6. doi: 10.1002/mus.20792. Muscle Nerve. 2007. PMID: 17486577

6

Clinical and genetic analysis of HLXB9 gene in Korean patients with Currarino syndrome.

Kim IS, Oh SY, Choi SJ, Kim JH, Park KH, Park HK, Kim JW, Ki CS. Kim IS, et al. Among authors: ki cs. J Hum Genet. 2007;52(8):698-701. doi: 10.1007/s10038-007-0173-y. Epub 2007 Jul 6. J Hum Genet. 2007. PMID: 17612791

7

Isobutyryl-CoA dehydrogenase deficiency with a novel ACAD8 gene mutation detected by tandem mass spectrometry newborn screening.

Yoo EH, Cho HJ, Ki CS, Lee SY. Yoo EH, et al. Among authors: ki cs. Clin Chem Lab Med. 2007;45(11):1495-7. doi: 10.1515/CCLM.2007.317. Clin Chem Lab Med. 2007. PMID: 17924841

8

Identification of a novel DHCR7 mutation in a Korean patient with Smith-Lemli-Opitz syndrome.

Jong Hee Chae, Ki Joong Kim, Yong Seung Hwang, Ki CS, Kim JW. Jong Hee Chae, et al. Among authors: ki cs, ki joong kim. J Child Neurol. 2007 Nov;22(11):1297-300. doi: 10.1177/0883073807307099. J Child Neurol. 2007. PMID: 18006960

9

[Standardized sweat chloride analysis for the diagnosis of cystic fibrosis in Korea].

Kim SJ, Lee M, Cha SI, Park HY, Ahn KM, Ki CS, Kim JH. Kim SJ, et al. Among authors: ki cs. Korean J Lab Med. 2008 Aug;28(4):274-81. doi: 10.3343/kjlm.2008.28.4.274. Korean J Lab Med. 2008. PMID: 18728376 Free article. Korean.

10

Biochemical and molecular investigation of two Korean patients with glycogen storage disease type III.

Oh SH, Park HD, Ki CS, Choe YH, Lee SY. Oh SH, et al. Among authors: ki cs. Clin Chem Lab Med. 2008;46(9):1245-9. doi: 10.1515/CCLM.2008.252. Clin Chem Lab Med. 2008. PMID: 18785866

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

592 results

Search Page

Filters