Cho EH - Search Results

1

Atypical teratoid rhabdoid brain tumor in an infant with ring chromosome 22.

Cho EH, Park JB, Kim JK. Cho EH, et al. Korean J Pediatr. 2014 Jul;57(7):333-6. doi: 10.3345/kjp.2014.57.7.333. Epub 2014 Jul 23. Korean J Pediatr. 2014. PMID: 25114695 Free PMC article.

2

The first Korean patient with Potocki-Shaffer syndrome: a rare cause of multiple exostoses.

Sohn YB, Yim SY, Cho EH, Kim OH. Sohn YB, et al. Among authors: cho eh. J Korean Med Sci. 2015 Feb;30(2):214-7. doi: 10.3346/jkms.2015.30.2.214. Epub 2015 Jan 21. J Korean Med Sci. 2015. PMID: 25653495 Free PMC article.

3

Case report of juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome: first report in Korea with a novel mutation in the SMAD4 gene.

Kang B, Hwang SK, Choi S, Kim ES, Lee SY, Ki CS, Cho EH, Lee JH, Choe BH. Kang B, et al. Among authors: cho eh. Transl Pediatr. 2021 May;10(5):1369-1376. doi: 10.21037/tp-21-12. Transl Pediatr. 2021. PMID: 34189096 Free PMC article.

4

A case of 9.7 Mb terminal Xp deletion including OA1 locus associated with contiguous gene syndrome.

Cho EH, Kim SY, Kim JK. Cho EH, et al. J Korean Med Sci. 2012 Oct;27(10):1273-7. doi: 10.3346/jkms.2012.27.10.1273. Epub 2012 Oct 2. J Korean Med Sci. 2012. PMID: 23091330 Free PMC article.

5

Kallmann syndrome with a Tyr113His PROKR2 mutation.

Ha JH, Lee S, Kim Y, Moon JI, Seo J, Jang JH, Cho EH, Kim JM, Rhee BD, Ko KS, Yoo SJ, Won JC. Ha JH, et al. Among authors: cho eh. Medicine (Baltimore). 2017 Sep;96(35):e7974. doi: 10.1097/MD.0000000000007974. Medicine (Baltimore). 2017. PMID: 28858133 Free PMC article.

6

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: cho eh. 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.

7

Diagnostic yield of targeted gene panel sequencing to identify the genetic etiology of disorders of sex development.

Kim JH, Kang E, Heo SH, Kim GH, Jang JH, Cho EH, Lee BH, Yoo HW, Choi JH. Kim JH, et al. Among authors: cho eh. Mol Cell Endocrinol. 2017 Mar 15;444:19-25. doi: 10.1016/j.mce.2017.01.037. Epub 2017 Jan 24. Mol Cell Endocrinol. 2017. PMID: 28130116

8

Novel Mutation (c.8725T>C) in Two Siblings With Late-Onset LAMA2-Related Muscular Dystrophy.

Kim MW, Jang DH, Kang J, Lee S, Joo SY, Jang JH, Cho EH, Choi YC, Lee JH. Kim MW, et al. Among authors: cho eh. Ann Lab Med. 2017 Jul;37(4):359-361. doi: 10.3343/alm.2017.37.4.359. Ann Lab Med. 2017. PMID: 28445022 Free PMC article. No abstract available.

9

Identification of the KCNJ2 Mutation in a Korean Family with Andersen-Tawil Syndrome and Developmental Delay.

Kim NR, Jang JH, Jeon GW, Cho EH, Sin JB. Kim NR, et al. Among authors: cho eh. Ann Clin Lab Sci. 2016 Winter;46(1):110-3. Ann Clin Lab Sci. 2016. PMID: 26927354

10

Identification of a Heterozygous SPG11 Mutation by Clinical Exome Sequencing in a Patient With Hereditary Spastic Paraplegia: A Case Report.

Oh JY, Do HJ, Lee S, Jang JH, Cho EH, Jang DH. Oh JY, et al. Among authors: cho eh. Ann Rehabil Med. 2016 Dec;40(6):1129-1134. doi: 10.5535/arm.2016.40.6.1129. Epub 2016 Dec 30. Ann Rehabil Med. 2016. PMID: 28119845 Free PMC article.

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