Ko JM - Search Results

1

A 3-Month-Old Boy With Progressive Weakness.

Kim SY, Ko JM, Choi SA, Cho A, Lee JS, Lim BC, Kim KJ, Chae JH. Kim SY, et al. Among authors: ko jm. Brain Pathol. 2018 Sep;28(5):773-774. doi: 10.1111/bpa.12651. Brain Pathol. 2018. PMID: 30375113 Free PMC article. No abstract available.

2

Distinct neurological features in a patient with Schinzel-Giedion syndrome caused by a recurrent SETBP1 mutation.

Ko JM, Lim BC, Kim KJ, Hwang YS, Ryu HW, Lee JH, Kim JS, Chae JH. Ko JM, et al. Childs Nerv Syst. 2013 Apr;29(4):525-9. doi: 10.1007/s00381-013-2047-2. Epub 2013 Feb 12. Childs Nerv Syst. 2013. PMID: 23400866

3

Monozygotic twin discordant for Down syndrome: mos 47,XX,+21/46,XX and 46,XX.

Choi SA, Ko JM, Shin CH, Yang SW, Choi JS, Oh SK. Choi SA, et al. Among authors: ko jm. Eur J Pediatr. 2013 Aug;172(8):1117-20. doi: 10.1007/s00431-013-1998-3. Epub 2013 Apr 5. Eur J Pediatr. 2013. PMID: 23559333

4

Cerebellar vermis hypoplasia in CHARGE syndrome: clinical and molecular characterization of 18 unrelated Korean patients.

Sohn YB, Ko JM, Shin CH, Yang SW, Chae JH, Lee KA. Sohn YB, et al. Among authors: ko jm. J Hum Genet. 2016 Mar;61(3):235-9. doi: 10.1038/jhg.2015.135. Epub 2015 Nov 5. J Hum Genet. 2016. PMID: 26538304

5

First Korean Patients with Craniofrontonasal Syndrome Confirmed by EFNB1 Analysis.

Yoo H, Ko JM, Lim BC, Cheong HI. Yoo H, et al. Among authors: ko jm. Ann Clin Lab Sci. 2016 Sep;46(5):544-8. Ann Clin Lab Sci. 2016. PMID: 27650623

6

The Korean undiagnosed diseases program: lessons from a one-year pilot project.

Kim SY, Lim BC, Lee JS, Kim WJ, Kim H, Ko JM, Kim KJ, Choi SA, Kim H, Hwang H, Choi JE, Cho A, Moon J, Seong MW, Park SS, Lee YJ, Kim YO, Kim JS, Kim WS, Kwon YS, Park JD, Ahn Y, Hwang JY, Park HY, Lee Y, Choi M, Chae JH. Kim SY, et al. Among authors: ko jm. Orphanet J Rare Dis. 2019 Mar 20;14(1):68. doi: 10.1186/s13023-019-1041-5. Orphanet J Rare Dis. 2019. PMID: 30894207 Free PMC article. Review.

7

Hyperammonemia in a case of herpes simplex and anti-N-methyl-d-aspartate receptor encephalitis.

Ko JM, Kim WJ, Kim SY, Lee JH, Chae JH, Kim KJ, Lim BC. Ko JM, et al. Brain Dev. 2019 Aug;41(7):634-637. doi: 10.1016/j.braindev.2019.03.013. Epub 2019 Apr 5. Brain Dev. 2019. PMID: 30961960

8

Novel and Private EDA Mutations and Clinical Phenotypes of Korean Patients with X-Linked Hypohidrotic Ectodermal Dysplasia.

Park JS, Ko JM, Chae JH. Park JS, et al. Among authors: ko jm. Cytogenet Genome Res. 2019;158(1):1-9. doi: 10.1159/000500214. Epub 2019 May 24. Cytogenet Genome Res. 2019. PMID: 31129666

9

Clinical and Molecular Characteristics of GNAS Inactivation Disorders Observed in 18 Korean Patients.

Han SR, Lee YA, Shin CH, Yang SW, Lim BC, Cho TJ, Ko JM. Han SR, et al. Among authors: ko jm. Exp Clin Endocrinol Diabetes. 2021 Feb;129(2):118-125. doi: 10.1055/a-1001-3575. Epub 2019 Sep 23. Exp Clin Endocrinol Diabetes. 2021. PMID: 31546270

10

Genomic profiling of 553 uncharacterized neurodevelopment patients reveals a high proportion of recessive pathogenic variant carriers in an outbred population.

Lee Y, Park S, Lee JS, Kim SY, Cho J, Yoo Y, Lee S, Yoo T, Lee M, Seo J, Lee J, Kneissl J, Lee J, Jeon H, Jeon EY, Hong SE, Kim E, Kim H, Kim WJ, Kim JS, Ko JM, Cho A, Lim BC, Kim WS, Choi M, Chae JH. Lee Y, et al. Among authors: ko jm. Sci Rep. 2020 Jan 29;10(1):1413. doi: 10.1038/s41598-020-58101-8. Sci Rep. 2020. PMID: 31996704 Free PMC article.

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