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A Case of AOA2 With Compound Heterozygous SETX Mutations.
Chang HJ, Kim R, Kim M, Moon J, Kim MJ, Kim HJ. Chang HJ, et al. Among authors: kim hj, kim r, kim m, kim mj. J Mov Disord. 2022 May;15(2):178-180. doi: 10.14802/jmd.21139. Epub 2021 Dec 24. J Mov Disord. 2022. PMID: 34937158 Free PMC article. No abstract available.
Fatal systemic disorder caused by biallelic variants in FARSA.
Kim SY, Ko S, Kang H, Kim MJ, Moon J, Lim BC, Kim KJ, Choi M, Choi HJ, Chae JH. Kim SY, et al. Among authors: kim kj, kim mj. Orphanet J Rare Dis. 2022 Aug 2;17(1):306. doi: 10.1186/s13023-022-02457-9. Orphanet J Rare Dis. 2022. PMID: 35918773 Free PMC article.
The Korean undiagnosed diseases program phase I: expansion of the nationwide network and the development of long-term infrastructure.
Kim SY, Lee S, Woo H, Han J, Ko YJ, Shim Y, Park S, Jang SS, Lim BC, Ko JM, Kim KJ, Cho A, Kim H, Hwang H, Choi JE, Kim MJ, Moon J, Seong MW, Park SS, Choi SA, Lee JE, Kwon YS, Sohn YB, Kim JS, Kim WS, Lee YJ, Kwon S, Kim YO, Kook H, Cho YG, Cheon CK, Kang KS, Song MR, Kim YJ, Cha HJ, Choi HJ, Kee Y, Park SG, Baek ST, Choi M, Ryu DS, Chae JH. Kim SY, et al. Among authors: kim kj, kim h, kim yj, kim yo, kim js, kim ws, kim mj. Orphanet J Rare Dis. 2022 Oct 8;17(1):372. doi: 10.1186/s13023-022-02520-5. Orphanet J Rare Dis. 2022. PMID: 36209187 Free PMC article.
The First Korean Case of VEXAS Syndrome Caused by a UBA1 Somatic Variant.
Yoon JG, Lee S, Kim S, Kim MJ, Chang YH, Park JK, Shin DY, Moon J. Yoon JG, et al. Among authors: kim s, kim mj. Ann Lab Med. 2023 Mar 1;43(2):217-220. doi: 10.3343/alm.2023.43.2.217. Epub 2022 Oct 25. Ann Lab Med. 2023. PMID: 36281520 Free PMC article. No abstract available.
First Cases of Spinocerebellar Ataxia 42 in Two Korean Families.
Son H, Yoon JG, Kim MJ, Moon J, Kim HJ. Son H, et al. Among authors: kim hj, kim mj. J Mov Disord. 2023 Jan;16(1):110-113. doi: 10.14802/jmd.22150. Epub 2023 Jan 12. J Mov Disord. 2023. PMID: 36628426 Free PMC article. No abstract available.
8,847 results