Jang JH - Search Results

1

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: jang jh, jang dh. 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.

2

Dysphagia could be the first presenting symptom of telbivudine-induced myopathy.

Lee SW, Jang JH, Kim BJ. Lee SW, et al. Among authors: jang jh. Intern Med J. 2013 Sep;43(9):1048-9. doi: 10.1111/imj.12237. Intern Med J. 2013. PMID: 24004397 No abstract available.

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: jang jh. 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: jang jh. 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

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: jang jh. 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

6

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: jang jh, jang dh. 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.

7

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. 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

8

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: jang jh. Medicine (Baltimore). 2017 Sep;96(35):e7974. doi: 10.1097/MD.0000000000007974. Medicine (Baltimore). 2017. PMID: 28858133 Free PMC article.

9

An atypical case of Noonan syndrome with KRAS mutation diagnosed by targeted exome sequencing.

Kim J, Cho SY, Yang A, Jang JH, Choi Y, Lee JE, Jin DK. Kim J, et al. Among authors: jang jh. Ann Pediatr Endocrinol Metab. 2017 Sep;22(3):203-207. doi: 10.6065/apem.2017.22.3.203. Epub 2017 Sep 28. Ann Pediatr Endocrinol Metab. 2017. PMID: 29025208 Free PMC article.

10

A Novel Inherited Mutation of SCN8A in a Korean Family with Benign Familial Infantile Epilepsy Using Diagnostic Exome Sequencing.

Han JY, Jang JH, Lee IG, Shin S, Park J. Han JY, et al. Among authors: jang jh. Ann Clin Lab Sci. 2017 Nov;47(6):747-753. Ann Clin Lab Sci. 2017. PMID: 29263050

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