Ko JM - Search Results

1

Two families with spondylo-epi-metaphyseal dysplasia due to compound heterozygocity in the vWFA domain of MATN3.

Cho TJ, Lee H, Ko JM, Song M, Shin CH, Song HR, Kim OH. Cho TJ, et al. Among authors: ko jm. Eur J Med Genet. 2024 Dec;72:104972. doi: 10.1016/j.ejmg.2024.104972. Epub 2024 Sep 16. Eur J Med Genet. 2024. PMID: 39293509 Free article.

2

An interstitial, apparently-balanced chromosomal insertion in the etiology of Langer-Giedion syndrome in an Asian family.

Min BJ, Ko JM, Seo ME, Choi JS, Oh SK, Jeon J, Kim E, Moon JE, Choi IH, Lee C, Kim OH, Cho TJ, Park WY. Min BJ, et al. Among authors: ko jm. Eur J Med Genet. 2013 Oct;56(10):561-5. doi: 10.1016/j.ejmg.2013.06.011. Epub 2013 Jul 5. Eur J Med Genet. 2013. PMID: 23832104

3

Living donor liver transplantation for an infant with osteogenesis imperfecta and intrahepatic cholestasis: report of a case.

Choi Y, Yi NJ, Ko JS, Ko JM, Jin US, Kim HS, Lee KH, Cho TJ, Suh SW, Yoo T, Lee KW, Suh KS. Choi Y, et al. Among authors: ko js, ko jm. J Korean Med Sci. 2014 Mar;29(3):441-4. doi: 10.3346/jkms.2014.29.3.441. Epub 2014 Feb 27. J Korean Med Sci. 2014. PMID: 24616597 Free PMC article.

4

A novel NOTCH2 mutation identified in a Korean family with Hajdu-Cheney syndrome showing phenotypic diversity.

Han MS, Ko JM, Cho TJ, Park WY, Cheong HI. Han MS, et al. Among authors: ko jm. Ann Clin Lab Sci. 2015 Winter;45(1):110-4. Ann Clin Lab Sci. 2015. PMID: 25696021

5

Skeletal overgrowth syndrome caused by overexpression of C-type natriuretic peptide in a girl with balanced chromosomal translocation, t(1;2)(q41;q37.1).

Ko JM, Bae JS, Choi JS, Miura K, Lee HR, Kim OH, Kim NK, Oh SK, Ozono K, Lee CK, Choi IH, Park WY, Cho TJ. Ko JM, et al. Am J Med Genet A. 2015 May;167A(5):1033-8. doi: 10.1002/ajmg.a.36884. Epub 2015 Feb 27. Am J Med Genet A. 2015. PMID: 25728306

6

SOFT syndrome caused by compound heterozygous mutations of POC1A and its skeletal manifestation.

Ko JM, Jung S, Seo J, Shin CH, Cheong HI, Choi M, Kim OH, Cho TJ. Ko JM, et al. J Hum Genet. 2016 Jun;61(6):561-4. doi: 10.1038/jhg.2015.174. Epub 2016 Jan 21. J Hum Genet. 2016. PMID: 26791357 Review.

7

Cutaneous Skeletal Hypophosphatemia Syndrome in Association with a Mosaic HRAS Mutation.

Park PG, Park E, Hyun HS, Kang HG, Ha IS, Cho TJ, Ko JM, Cheong HI. Park PG, et al. Among authors: ko jm. Ann Clin Lab Sci. 2018 Sep;48(5):665-669. Ann Clin Lab Sci. 2018. PMID: 30373874

8

Deletion of exons 16-17b of CFTR is frequently identified in Korean patients with cystic fibrosis.

Sohn YB, Ko JM, Jang JY, Seong MW, Park SS, Suh DI, Ko JS, Shin CH. Sohn YB, et al. Among authors: ko js, ko jm. Eur J Med Genet. 2019 Aug;62(8):103681. doi: 10.1016/j.ejmg.2019.103681. Epub 2019 May 25. Eur J Med Genet. 2019. PMID: 31136843

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

Diagnosis and Management of Hip Dislocation in Patients with Kabuki Syndrome.

Lim C, Jung ST, Shin CH, Park MS, Yoo WJ, Chung CY, Choi IH, Ko JM, Cho TJ. Lim C, et al. Among authors: ko jm. Clin Orthop Surg. 2019 Dec;11(4):474-481. doi: 10.4055/cios.2019.11.4.474. Epub 2019 Nov 12. Clin Orthop Surg. 2019. PMID: 31788172 Free PMC article.

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