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Homozygous variant in translocase of outer mitochondrial membrane 7 leads to metabolic reprogramming and microcephalic osteodysplastic dwarfism with moyamoya disease.
Li CY, Chen LW, Tsai MC, Chou YY, Lin PX, Chang YM, Hwu WL, Chien YH, Lin JL, Chen HA, Lee NC, Su PH, Hsieh TC, Klinkhammer H, Wang YC, Huang YT, Krawitz PM, Lin SH, Huang LLH, Chiang PM, Shih MH, Chen PC. Li CY, et al. Among authors: chiang pm. EBioMedicine. 2024 Dec;110:105476. doi: 10.1016/j.ebiom.2024.105476. Epub 2024 Nov 29. EBioMedicine. 2024. PMID: 39615461 Free PMC article.
Copy number variant hotspots in Han Taiwanese population induced pluripotent stem cell lines - lessons from establishing the Taiwan human disease iPSC Consortium Bank.
Huang CY, Li LH, Hsu WT, Cheng YC, Nicholson MW, Liu CL, Ting CY, Ko HW, Syu SH, Wen CH, Yan Z, Huang HP, Su HL, Chiang PM, Shen CN, Chen HF, Yen BLJ, Lu HE, Hwang SM, Chiou SH, Ho HN, Wu JY, Kamp TJ, Wu JC, Hsieh PCH. Huang CY, et al. Among authors: chiang pm. J Biomed Sci. 2020 Sep 4;27(1):92. doi: 10.1186/s12929-020-00682-7. J Biomed Sci. 2020. PMID: 32887585 Free PMC article.
26 results