Cho EH - Search Results

1

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

2

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.

3

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

4

Genetic and functional analysis of TBK1 variants in Korean patients with sporadic amyotrophic lateral sclerosis.

Kim YE, Oh KW, Noh MY, Nahm M, Park J, Lim SM, Jang JH, Cho EH, Ki CS, Lee S, Kim SH. Kim YE, et al. Among authors: cho eh. Neurobiol Aging. 2017 Feb;50:170.e1-170.e6. doi: 10.1016/j.neurobiolaging.2016.11.003. Epub 2016 Nov 19. Neurobiol Aging. 2017. PMID: 27939697

5

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.

6

Carrier frequency of Wilson's disease in the Korean population: a DNA-based approach.

Jang JH, Lee T, Bang S, Kim YE, Cho EH. Jang JH, et al. Among authors: cho eh. J Hum Genet. 2017 Sep;62(9):815-818. doi: 10.1038/jhg.2017.49. Epub 2017 May 18. J Hum Genet. 2017. PMID: 28515472

7

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.

8

Analysis of frontotemporal dementia, amyotrophic lateral sclerosis, and other dementia-related genes in 107 Korean patients with frontotemporal dementia.

Kim EJ, Kim YE, Jang JH, Cho EH, Na DL, Seo SW, Jung NY, Jeong JH, Kwon JC, Park KH, Park KW, Lee JH, Roh JH, Kim HJ, Yoon SJ, Choi SH, Jang JW, Ki CS, Kim SH. Kim EJ, et al. Among authors: cho eh. Neurobiol Aging. 2018 Dec;72:186.e1-186.e7. doi: 10.1016/j.neurobiolaging.2018.06.031. Epub 2018 Jun 30. Neurobiol Aging. 2018. PMID: 30054184

9

Genome-wide copy number alteration and VEGFA amplification of circulating cell-free DNA as a biomarker in advanced hepatocellular carcinoma patients treated with Sorafenib.

Oh CR, Kong SY, Im HS, Kim HJ, Kim MK, Yoon KA, Cho EH, Jang JH, Lee J, Kang J, Park SR, Ryoo BY. Oh CR, et al. Among authors: cho eh. BMC Cancer. 2019 Apr 1;19(1):292. doi: 10.1186/s12885-019-5483-x. BMC Cancer. 2019. PMID: 30935424 Free PMC article.

10

Clinically significant maternal X chromosomal copy number variation detected by noninvasive prenatal test.

Kim SC, Cha DH, Jeong HR, Lee J, Jang JH, Cho EH. Kim SC, et al. Among authors: cho eh. J Obstet Gynaecol Res. 2019 Sep;45(9):1925-1928. doi: 10.1111/jog.14033. Epub 2019 Jun 19. J Obstet Gynaecol Res. 2019. PMID: 31215731

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