- Non-Homologous End Joining Repair Mechanism-Mediated Deletion of CHD7 Gene in a Patient with Typical CHARGE Syndrome
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Lee SJ, Chae JH, Lee JA, Cho SI, Seo SH, Park H, Seong MW, Park SS
- KMID: 2363163
- Ann Lab Med.
- 2015 Jan;35(1):141-145.
- doi: 10.3343/alm.2015.35.1.141
CHARGE syndrome MIM #214800 is an autosomal dominant syndrome involving multiple congenital malformations. Clinical symptoms include coloboma, heart defects, choanal atresia, retardation of growth or development, genital hypoplasia, and ear... -
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- Concurrence of e1a2 and e19a2 BCR-ABL1 Fusion Transcripts in a Typical Case of Chronic Myeloid Leukemia
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Lee J, Kim DS, Lee HS, Choi SI, Cho YG
- KMID: 2373619
- Ann Lab Med.
- 2017 Jan;37(1):74-76.
- doi: 10.3343/alm.2017.37.1.74
No abstract available. -
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- Evaluation of the Anyplex BRAF V600E Real-Time Detection Assay Using Dual-Priming Oligonucleotide Technology in Fine-Needle Aspirates of Thyroid Nodules
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Choi R, Park KS, Kim JW, Ki CS
- KMID: 2363266
- Ann Lab Med.
- 2015 Nov;35(6):624-629.
- doi: 10.3343/alm.2015.35.6.624
BACKGROUND: Several molecular assays have been developed to detect the BRAF V600E mutation in fine needle aspirates (FNAs) for the diagnosis of papillary thyroid cancer. Using a multiplex PCR technique,... -
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- Identification of Somatic KRAS Mutation in a Korean Baby with Nevus Sebaceus Syndrome
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Kim SW, Song JS, Kang MS, Sin JB, Ki CS, Jeon GW
- KMID: 2363174
- Ann Lab Med.
- 2015 Jan;35(1):178-180.
- doi: 10.3343/alm.2015.35.1.178
No abstract available. -
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- Identification of Compound Heterozygous Mutations in the BBS7 Gene in a Korean Family with Bardet-Biedl Syndrome
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Shin SJ, Kim M, Chae H, Kwon A, Kim Y, Kim SJ, Yoon HE, Jekarl DW, Lee S
- KMID: 2363175
- Ann Lab Med.
- 2015 Jan;35(1):181-184.
- doi: 10.3343/alm.2015.35.1.181
No abstract available. -
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