Jang MA - 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. 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

Mycobacterial infection after intravesical bacillus Calmette-Guërin treatment for bladder cancer: a case report.

Park CH, Jang MA, Ahn YH, Hwang YY, Ki CS, Lee NY. Park CH, et al. Among authors: jang ma. Korean J Lab Med. 2011 Jul;31(3):197-200. doi: 10.3343/kjlm.2011.31.3.197. Epub 2011 Jun 28. Korean J Lab Med. 2011. PMID: 21779195 Free PMC article.

3

Novel mutations in CEBPA in Korean Patients with acute myeloid leukemia with a normal karyotype.

Kim S, Kim DH, Jang JH, Jung CW, Jang MA, Ki CS, Kim JW, Kim SH, Kim HJ. Kim S, et al. Among authors: jang jh, jang ma. Ann Lab Med. 2012 Mar;32(2):153-7. doi: 10.3343/alm.2012.32.2.153. Epub 2012 Feb 23. Ann Lab Med. 2012. PMID: 22389883 Free PMC article.

4

Identification of TSC1 and TSC2 mutations in Korean patients with tuberous sclerosis complex.

Jang MA, Hong SB, Lee JH, Lee MH, Chung MP, Shin HJ, Kim JW, Ki CS. Jang MA, et al. Pediatr Neurol. 2012 Apr;46(4):222-4. doi: 10.1016/j.pediatrneurol.2012.02.002. Pediatr Neurol. 2012. PMID: 22490766

5

Identification of a rare 3 bp BRAF gene deletion in a thyroid nodule by mutant enrichment with 3'-modified oligonucleotides polymerase chain reaction.

Jang MA, Lee ST, Oh YL, Kim SW, Chung JH, Ki CS, Kim JW. Jang MA, et al. Ann Lab Med. 2012 May;32(3):238-41. doi: 10.3343/alm.2012.32.3.238. Epub 2012 Apr 18. Ann Lab Med. 2012. PMID: 22563563 Free PMC article.

6

Identification of PRODH mutations in Korean neonates with type I hyperprolinemia.

Jang MA, Kim BC, Ki CS, Lee SY, Kim JW, Choi TY, Lee DH, Song J, Lee YW, Park HD. Jang MA, et al. Ann Clin Lab Sci. 2013 Winter;43(1):31-6. Ann Clin Lab Sci. 2013. PMID: 23462603

7

Isolation and identification of Geosmithia argillacea from a fungal ball in the lung of a tuberculosis patient.

Sohn JY, Jang MA, Lee JH, Park KS, Ki CS, Lee NY. Sohn JY, et al. Among authors: jang ma. Ann Lab Med. 2013 Mar;33(2):136-40. doi: 10.3343/alm.2013.33.2.136. Epub 2013 Feb 21. Ann Lab Med. 2013. PMID: 23483122 Free PMC article.

8

Association of CFTR gene variants with nontuberculous mycobacterial lung disease in a Korean population with a low prevalence of cystic fibrosis.

Jang MA, Kim SY, Jeong BH, Park HY, Jeon K, Kim JW, Ki CS, Koh WJ. Jang MA, et al. J Hum Genet. 2013 May;58(5):298-303. doi: 10.1038/jhg.2013.19. Epub 2013 Mar 21. J Hum Genet. 2013. PMID: 23514810

9

Identification of DCX gene mutation in lissencephaly spectrum with subcortical band heterotopia using whole exome sequencing.

Jang MA, Woo HI, Kim JW, Lee J, Ki CS. Jang MA, et al. Pediatr Neurol. 2013 May;48(5):411-4. doi: 10.1016/j.pediatrneurol.2012.12.033. Pediatr Neurol. 2013. PMID: 23583063

10

A novel mutation (c.200T>C) in the NAGLU gene of a Korean patient with mucopolysaccharidosis IIIB.

Kim YE, Park HD, Jang MA, Ki CS, Lee SY, Kim JW, Cho SY, Jin DK. Kim YE, et al. Among authors: jang ma. Ann Lab Med. 2013 May;33(3):221-4. doi: 10.3343/alm.2013.33.3.221. Epub 2013 Apr 17. Ann Lab Med. 2013. PMID: 23667853 Free PMC article.

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