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Variable phenotypes and outcomes associated with the MMACHC c.482G > A mutation: follow-up in a large CblC disease cohort.
Wu SN, E HS, Yu Y, Ling SY, Liang LL, Qiu WJ, Zhang HW, Shuai RX, Wei HY, Yang CJ, Xu P, Chen XG, Zou H, Feng JZ, Niu TT, Hu HL, Zhang KC, Lu DY, Gong ZW, Zhan X, Ji WJ, Gu XF, Chen YX, Han LS. Wu SN, et al. Among authors: han ls. World J Pediatr. 2023 Dec 9. doi: 10.1007/s12519-023-00770-2. Online ahead of print. World J Pediatr. 2023. PMID: 38070096
Iris Cyst.
Han LS, Meyer JJ. Han LS, et al. 2022 Sep 19. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan–. 2022 Sep 19. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan–. PMID: 34662087 Free Books & Documents.
Application of next generation sequencing in the screening of monogenic diseases in China, 2021: a consensus among Chinese newborn screening experts.
Tong F, Wang J, Xiao R, Wu BB, Zou CC, Wu DW, Wang H, Zou H, Han LS, Yang L, Zou L, Hei MY, Yang RL, Yuan TM, Wen W, Huang XW, Gu XF, Yang YL, Huang YL, Zhang YJ, Yu YG, Xu ZF, Zhou WH, Zhao ZY. Tong F, et al. Among authors: han ls. World J Pediatr. 2022 Apr;18(4):235-242. doi: 10.1007/s12519-022-00522-8. Epub 2022 Mar 15. World J Pediatr. 2022. PMID: 35292922 No abstract available.
106 results