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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: choi je, choi m, choi sa, choi hj. 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.
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: choi m, choi hj. 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.
GABBR2 mutations determine phenotype in rett syndrome and epileptic encephalopathy.
Yoo Y, Jung J, Lee YN, Lee Y, Cho H, Na E, Hong J, Kim E, Lee JS, Lee JS, Hong C, Park SY, Wie J, Miller K, Shur N, Clow C, Ebel RS, DeBrosse SD, Henderson LB, Willaert R, Castaldi C, Tikhonova I, Bilgüvar K, Mane S, Kim KJ, Hwang YS, Lee SG, So I, Lim BC, Choi HJ, Seong JY, Shin YB, Jung H, Chae JH, Choi M. Yoo Y, et al. Among authors: choi m, choi hj. Ann Neurol. 2017 Sep;82(3):466-478. doi: 10.1002/ana.25032. Ann Neurol. 2017. PMID: 28856709
19,338 results
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