Kim YM - Search Results

1

Clinical and genetic analyses of patients with lateralized overgrowth.

Kim YM, Lee Y, Choi Y, Choi IH, Heo SH, Choi JM, Do HS, Jang JH, Yum MS, Yoo HW, Lee BH. Kim YM, et al. BMC Med Genomics. 2022 Sep 30;15(1):206. doi: 10.1186/s12920-022-01362-1. BMC Med Genomics. 2022. PMID: 36175890 Free PMC article.

2

Whole-body MRI evaluation in neurofibromatosis type 1 patients younger than 3 years old and the genetic contribution to disease progression.

Kang E, Kim YM, Choi Y, Lee Y, Kim J, Choi IH, Yoo HW, Yoon HM, Lee BH. Kang E, et al. Among authors: kim ym, kim j. Orphanet J Rare Dis. 2022 Jan 29;17(1):24. doi: 10.1186/s13023-022-02174-3. Orphanet J Rare Dis. 2022. PMID: 35093157 Free PMC article.

3

Rare Frequency of Mutations in Pituitary Transcription Factor Genes in Combined Pituitary Hormone or Isolated Growth Hormone Deficiencies in Korea.

Choi JH, Jung CW, Kang E, Kim YM, Heo SH, Lee BH, Kim GH, Yoo HW. Choi JH, et al. Among authors: kim gh, kim ym. Yonsei Med J. 2017 May;58(3):527-532. doi: 10.3349/ymj.2017.58.3.527. Yonsei Med J. 2017. PMID: 28332357 Free PMC article.

4

Characteristic dysmorphic features in congenital disorders of glycosylation type IIb.

Kim YM, Seo GH, Jung E, Jang JH, Kim SZ, Lee BH. Kim YM, et al. Among authors: kim sz. J Hum Genet. 2018 Mar;63(3):383-386. doi: 10.1038/s10038-017-0386-7. Epub 2017 Dec 13. J Hum Genet. 2018. PMID: 29235540 Review.

5

A case of an infant suspected as IMAGE syndrome who were finally diagnosed with MIRAGE syndrome by targeted Mendelian exome sequencing.

Kim YM, Seo GH, Kim GH, Ko JM, Choi JH, Yoo HW. Kim YM, et al. Among authors: kim gh. BMC Med Genet. 2018 Mar 5;19(1):35. doi: 10.1186/s12881-018-0546-4. BMC Med Genet. 2018. PMID: 29506479 Free PMC article.

6

Clinical and genetic characteristics of patients with fatty acid oxidation disorders identified by newborn screening.

Kang E, Kim YM, Kang M, Heo SH, Kim GH, Choi IH, Choi JH, Yoo HW, Lee BH. Kang E, et al. Among authors: kim gh, kim ym. BMC Pediatr. 2018 Mar 8;18(1):103. doi: 10.1186/s12887-018-1069-z. BMC Pediatr. 2018. PMID: 29519241 Free PMC article.

7

Biochemical and molecular characterisation of neurological Wilson disease.

Seo GH, Kim YM, Oh SH, Chung SJ, Choi IH, Kim GH, Yum MS, Choi JH, Kim KM, Ko TS, Lee BH, Yoo HW. Seo GH, et al. Among authors: kim gh, kim km, kim ym. J Med Genet. 2018 Sep;55(9):587-593. doi: 10.1136/jmedgenet-2017-105214. Epub 2018 Apr 4. J Med Genet. 2018. PMID: 29618506

8

Clinical characteristics and treatment outcomes in Camurati-Engelmann disease: A case series.

Kim YM, Kang E, Choi JH, Kim GH, Yoo HW, Lee BH. Kim YM, et al. Among authors: kim gh. Medicine (Baltimore). 2018 Apr;97(14):e0309. doi: 10.1097/MD.0000000000010309. Medicine (Baltimore). 2018. PMID: 29620655 Free PMC article.

9

Pharmacologic properties of high-dose ambroxol in four patients with Gaucher disease and myoclonic epilepsy.

Kim YM, Yum MS, Heo SH, Kim T, Jin HK, Bae JS, Seo GH, Oh A, Yoon HM, Lim HT, Kim HW, Ko TS, Lim HS, Osborn MJ, Tolar J, Cozma C, Rolfs A, Zimran A, Lee BH, Yoo HW. Kim YM, et al. Among authors: kim hw, kim t. J Med Genet. 2020 Feb;57(2):124-131. doi: 10.1136/jmedgenet-2019-106132. Epub 2019 Oct 24. J Med Genet. 2020. PMID: 31649052 Free PMC article.

10

Clinical and genetic features of four patients with Pearson syndrome: An observational study.

Son JS, Seo GH, Kim YM, Kim GH, Jin HK, Bae JS, Im HJ, Yoo HW, Lee BH. Son JS, et al. Among authors: kim gh, kim ym. Medicine (Baltimore). 2022 Feb 4;101(5):e28793. doi: 10.1097/MD.0000000000028793. Medicine (Baltimore). 2022. PMID: 35119049 Free PMC article.

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