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A nonsense TMEM43 variant leads to disruption of connexin-linked function and autosomal dominant auditory neuropathy spectrum disorder.
Jang MW, Oh DY, Yi E, Liu X, Ling J, Kim N, Sharma K, Kim TY, Lee S, Kim AR, Kim MY, Kim MA, Lee M, Han JH, Han JJ, Park HR, Kim BJ, Lee SY, Woo DH, Oh J, Oh SJ, Du T, Koo JW, Oh SH, Shin HW, Seong MW, Lee KY, Kim UK, Shin JB, Sang S, Cai X, Mei L, He C, Blanton SH, Chen ZY, Chen H, Liu X, Nourbakhsh A, Huang Z, Kang KW, Park WY, Feng Y, Lee CJ, Choi BY. Jang MW, et al. Among authors: seong mw. Proc Natl Acad Sci U S A. 2021 Jun 1;118(22):e2019681118. doi: 10.1073/pnas.2019681118. Proc Natl Acad Sci U S A. 2021. PMID: 34050020 Free PMC article.
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: seong mw. 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.
A Novel Missense PRKAR1A Variant Causes Carney Complex.
Kim B, Jang HN, Chae KS, Shin HS, Kim YH, Kim SJ, Seong MW, Kim JH. Kim B, et al. Among authors: seong mw. Endocrinol Metab (Seoul). 2022 Oct;37(5):810-815. doi: 10.3803/EnM.2022.1544. Epub 2022 Oct 4. Endocrinol Metab (Seoul). 2022. PMID: 36193716 Free PMC article.
A Unique Mutational Spectrum of MLC1 in Korean Patients With Megalencephalic Leukoencephalopathy With Subcortical Cysts: p.Ala275Asp Founder Mutation and Maternal Uniparental Disomy of Chromosome 22.
Choi SA, Kim SY, Yoon J, Choi J, Park SS, Seong MW, Kim H, Hwang H, Choi JE, Chae JH, Kim KJ, Kim S, Lee YJ, Nam SO, Lim BC. Choi SA, et al. Among authors: seong mw. Ann Lab Med. 2017 Nov;37(6):516-521. doi: 10.3343/alm.2017.37.6.516. Ann Lab Med. 2017. PMID: 28840990 Free PMC article.
239 results