Kim YM - Search Results

1

Autosomal dominant transmission of complicated hereditary spastic paraplegia due to a dominant negative mutation of KIF1A, SPG30 gene.

Cheon CK, Lim SH, Kim YM, Kim D, Lee NY, Yoon TS, Kim NS, Kim E, Lee JR. Cheon CK, et al. Among authors: kim e, kim ym, kim d, kim ns. Sci Rep. 2017 Oct 2;7(1):12527. doi: 10.1038/s41598-017-12999-9. Sci Rep. 2017. PMID: 28970574 Free PMC article.

2

Novel mutations and clinical outcomes of copper-histidine therapy in Menkes disease patients.

Kim JH, Lee BH, Kim YM, Choi JH, Kim GH, Cheon CK, Yoo HW. Kim JH, et al. Among authors: kim gh, kim ym. Metab Brain Dis. 2015 Feb;30(1):75-81. doi: 10.1007/s11011-014-9569-5. Epub 2014 Jun 13. Metab Brain Dis. 2015. PMID: 24919650

3

A de novo microdeletion of ANKRD11 gene in a Korean patient with KBG syndrome.

Lim JH, Seo EJ, Kim YM, Cho HJ, Lee JO, Cheon CK, Yoo HW. Lim JH, et al. Among authors: kim ym. Ann Lab Med. 2014 Sep;34(5):390-4. doi: 10.3343/alm.2014.34.5.390. Epub 2014 Aug 21. Ann Lab Med. 2014. PMID: 25187894 Free PMC article.

4

Determination of Autosomal Dominant or Recessive Methionine Adenosyltransferase I/III Deficiencies Based on Clinical and Molecular Studies.

Kim YM, Kim JH, Choi J, Gu-Hwan K, Kim JM, Kang M, Choi IH, Cheon CK, Sohn YB, Maccarana M, Yoo HW, Lee BH. Kim YM, et al. Among authors: kim jm, kim jh. Mol Med. 2016 Sep;22:147-155. doi: 10.2119/molmed.2015.00254. Epub 2016 Feb 18. Mol Med. 2016. PMID: 26933843 Free PMC article.

5

Case report of unexpected gastrointestinal involvement in type 1 Gaucher disease: comparison of eliglustat tartrate treatment and enzyme replacement therapy.

Kim YM, Shin DH, Park SB, Cheon CK, Yoo HW. Kim YM, et al. BMC Med Genet. 2017 May 15;18(1):55. doi: 10.1186/s12881-017-0403-x. BMC Med Genet. 2017. PMID: 28506293 Free PMC article.

6

The First Korean case of combined oxidative phosphorylation deficiency-17 diagnosed by clinical and molecular investigation.

Kim YA, Kim YM, Lee YJ, Cheon CK. Kim YA, et al. Among authors: kim ym. Korean J Pediatr. 2017 Dec;60(12):408-412. doi: 10.3345/kjp.2017.60.12.408. Epub 2017 Dec 22. Korean J Pediatr. 2017. PMID: 29302266 Free PMC article.

7

Identification of a Novel MYH9 Mutation in a Young Adult With Inherited Thrombocytopenia and Recurrent Seizures by Targeted Exome Sequencing.

Yang EJ, Park KM, Kim YM, Jung KS, Lim YT, Cheon CK. Yang EJ, et al. Among authors: kim ym. J Pediatr Hematol Oncol. 2020 Apr;42(3):e188-e192. doi: 10.1097/MPH.0000000000001430. J Pediatr Hematol Oncol. 2020. PMID: 30720677

8

Successful rapid weight reduction and the use of liraglutide for morbid obesity in adolescent Prader-Willi syndrome.

Kim YM, Lee YJ, Kim SY, Cheon CK, Lim HH. Kim YM, et al. Among authors: kim sy. Ann Pediatr Endocrinol Metab. 2020 Mar;25(1):52-56. doi: 10.6065/apem.2020.25.1.52. Epub 2020 Mar 31. Ann Pediatr Endocrinol Metab. 2020. PMID: 32252218 Free PMC article.

9

The GBA p.G85E mutation in Korean patients with non-neuronopathic Gaucher disease: founder and neuroprotective effects.

Kim YM, Choi JH, Kim GH, Sohn YB, Ko JM, Lee BH, Cheon CK, Lim HH, Heo SH, Yoo HW. Kim YM, et al. Among authors: kim gh. Orphanet J Rare Dis. 2020 Nov 11;15(1):318. doi: 10.1186/s13023-020-01597-0. Orphanet J Rare Dis. 2020. PMID: 33176831 Free PMC article.

10

Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay.

Seo GH, Lee H, Lee J, Han H, Cho YK, Kim M, Choi Y, Choi J, Choi IH, Rhie S, Chae KY, Kim YM, Cheon CK, Kim SJ, Lee J, Kang E, Byeon JH, Yu HJ, Shin YL, Oh A, Kim WJ, Yum MS, Lee BH, Eun BL. Seo GH, et al. Among authors: kim wj, kim ym, kim sj, kim m. Mol Med. 2022 Mar 26;28(1):38. doi: 10.1186/s10020-022-00464-x. Mol Med. 2022. PMID: 35346031 Free PMC article.

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