Ko JM - Search Results

1

Case report: Focal segmental glomerulosclerosis in a pediatric atypical progeroid syndrome.

Jang S, Ahn YH, Ko JM, Ko JS, Lim S, Kang HG. Jang S, et al. Among authors: ko js, ko jm. Front Pediatr. 2022 Oct 31;10:1032653. doi: 10.3389/fped.2022.1032653. eCollection 2022. Front Pediatr. 2022. PMID: 36389384 Free PMC article.

2

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.

3

Novel Mutations in the CPT1A Gene Identified in the Patient Presenting Jaundice as the First Manifestation of Carnitine Palmitoyltransferase 1A Deficiency.

Choi JS, Yoo HW, Lee KJ, Ko JM, Moon JS, Ko JS. Choi JS, et al. Among authors: ko js, ko jm. Pediatr Gastroenterol Hepatol Nutr. 2016 Mar;19(1):76-81. doi: 10.5223/pghn.2016.19.1.76. Epub 2016 Mar 22. Pediatr Gastroenterol Hepatol Nutr. 2016. PMID: 27066452 Free PMC article.

4

Targeted exome sequencing resolves allelic and the genetic heterogeneity in the genetic diagnosis of nephronophthisis-related ciliopathy.

Kang HG, Lee HK, Ahn YH, Joung JG, Nam J, Kim NK, Ko JM, Cho MH, Shin JI, Kim J, Park HW, Park YS, Ha IS, Chung WY, Lee DY, Kim SY, Park WY, Cheong HI. Kang HG, et al. Among authors: ko jm. Exp Mol Med. 2016 Aug 5;48(8):e251. doi: 10.1038/emm.2016.63. Exp Mol Med. 2016. PMID: 27491411 Free PMC article.

5

A 7-year-old girl presenting with a Bartter-like phenotype: Questions.

Choe Y, Park E, Hyun HS, Ko JM, Kang HG, Kim JH, Park SH, Cheong HI. Choe Y, et al. Among authors: ko jm. Pediatr Nephrol. 2017 Jun;32(6):981-982. doi: 10.1007/s00467-016-3473-7. Epub 2016 Aug 17. Pediatr Nephrol. 2017. PMID: 27534762 No abstract available.

6

A 7-year-old girl presenting with a Bartter-like phenotype: Answers.

Choe Y, Park E, Hyun HS, Ko JM, Kang HG, Kim JH, Park SH, Cheong HI. Choe Y, et al. Among authors: ko jm. Pediatr Nephrol. 2017 Jun;32(6):983-985. doi: 10.1007/s00467-016-3480-8. Epub 2016 Aug 17. Pediatr Nephrol. 2017. PMID: 27534763 No abstract available.

7

Loss of podocalyxin causes a novel syndromic type of congenital nephrotic syndrome.

Kang HG, Lee M, Lee KB, Hughes M, Kwon BS, Lee S, McNagny KM, Ahn YH, Ko JM, Ha IS, Choi M, Cheong HI. Kang HG, et al. Among authors: ko jm. Exp Mol Med. 2017 Dec 15;49(12):e414. doi: 10.1038/emm.2017.227. Exp Mol Med. 2017. PMID: 29244787 Free PMC article.

8

A Novel Homozygous LIPA Mutation in a Korean Child with Lysosomal Acid Lipase Deficiency.

Kim KY, Kim JW, Lee KJ, Park E, Kang GH, Choi YH, Kim WS, Ko JM, Moon JS, Ko JS. Kim KY, et al. Among authors: ko js, ko jm. Pediatr Gastroenterol Hepatol Nutr. 2017 Dec;20(4):263-267. doi: 10.5223/pghn.2017.20.4.263. Epub 2017 Dec 22. Pediatr Gastroenterol Hepatol Nutr. 2017. PMID: 29302509 Free PMC article.

9

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

10

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

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