Kim YM - Search Results

1

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

2

Endocrine dysfunctions in children with Williams-Beuren syndrome.

Kim YM, Cho JH, Kang E, Kim GH, Seo EJ, Lee BH, Choi JH, Yoo HW. Kim YM, et al. Among authors: kim gh. Ann Pediatr Endocrinol Metab. 2016 Mar;21(1):15-20. doi: 10.6065/apem.2016.21.1.15. Epub 2016 Mar 31. Ann Pediatr Endocrinol Metab. 2016. PMID: 27104174 Free PMC article.

3

MPV17 mutations in patients with hepatocerebral mitochondrial DNA depletion syndrome.

Kim J, Kang E, Kim Y, Kim JM, Lee BH, Murayama K, Kim GH, Choi IH, Kim KM, Yoo HW. Kim J, et al. Mol Genet Metab Rep. 2016 Aug 4;8:74-6. doi: 10.1016/j.ymgmr.2016.06.006. eCollection 2016 Sep. Mol Genet Metab Rep. 2016. PMID: 27536553 Free PMC article.

4

Phelan-McDermid syndrome presenting with developmental delays and facial dysmorphisms.

Kim YM, Choi IH, Kim JS, Kim JH, Cho JH, Lee BH, Kim GH, Choi JH, Seo EJ, Yoo HW. Kim YM, et al. Among authors: kim gh, kim js, kim jh. Korean J Pediatr. 2016 Nov;59(Suppl 1):S25-S28. doi: 10.3345/kjp.2016.59.11.S25. Epub 2016 Nov 30. Korean J Pediatr. 2016. PMID: 28018439 Free PMC article.

5

Long-term Consequences of Congenital Adrenal Hyperplasia due to Classic 21-hydroxylase Deficiency in Adolescents and Adults.

Kim JH, Choi JH, Kang E, Kim YM, Lee BH, Yoo HW. Kim JH, et al. Among authors: kim ym. Exp Clin Endocrinol Diabetes. 2017 Mar;125(3):196-201. doi: 10.1055/s-0042-123037. Epub 2017 Jan 10. Exp Clin Endocrinol Diabetes. 2017. PMID: 28073127

6

Life-threatening bleeding from gastric mucosal angiokeratomas during anticoagulation: A case report of Fabry disease.

Kang E, Kim YM, Kim DH, Yoo HW, Lee BH. Kang E, et al. Among authors: kim ym, kim dh. Medicine (Baltimore). 2017 Feb;96(6):e6063. doi: 10.1097/MD.0000000000006063. Medicine (Baltimore). 2017. PMID: 28178158 Free PMC article.

7

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.

8

Diabetes mellitus caused by secondary hemochromatosis after multiple blood transfusions in 2 patients with severe aplastic anemia.

Kim HJ, Kim YM, Kang E, Lee BH, Choi JH, Yoo HW. Kim HJ, et al. Among authors: kim ym. Ann Pediatr Endocrinol Metab. 2017 Mar;22(1):60-64. doi: 10.6065/apem.2017.22.1.60. Epub 2017 Mar 31. Ann Pediatr Endocrinol Metab. 2017. PMID: 28443261 Free PMC article.

9

Mutation Spectrum of STAR and a Founder Effect of the p.Q258* in Korean Patients with Congenital Lipoid Adrenal Hyperplasia.

Kang E, Kim YM, Kim GH, Lee BH, Yoo HW, Choi JH. Kang E, et al. Among authors: kim gh, kim ym. Mol Med. 2017 Jul;23:149-154. doi: 10.2119/molmed.2017.00023. Epub 2017 May 2. Mol Med. 2017. PMID: 28467518 Free PMC article.

10

Fabry disease: characterisation of the plasma proteome pre- and post-enzyme replacement therapy.

Heo SH, Kang E, Kim YM, Go H, Kim KY, Jung JY, Kang M, Kim GH, Kim JM, Choi IH, Choi JH, Jung SC, Desnick RJ, Yoo HW, Lee BH. Heo SH, et al. Among authors: kim gh, kim jm, kim ym, kim ky. J Med Genet. 2017 Nov;54(11):771-780. doi: 10.1136/jmedgenet-2017-104704. Epub 2017 Aug 23. J Med Genet. 2017. PMID: 28835480 Free PMC article.

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