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ECHS1 disease in two unrelated families of Samoan descent: Common variant - rare disorder.
Am J Med Genet A. 2021 Jan;185(1):157-167. doi: 10.1002/ajmg.a.61936. Epub 2020 Oct 28.
Am J Med Genet A. 2021.
PMID: 33112498
Free PMC article.
Novel mutations in the mitochondrial complex I assembly gene NDUFAF5 reveal heterogeneous phenotypes.
Simon MT, Eftekharian SS, Stover AE, Osborne AF, Braffman BH, Chang RC, Wang RY, Steenari MR, Tang S, Hwu PW, Taft RJ, Benke PJ, Abdenur JE.
Simon MT, et al. Among authors: eftekharian ss.
Mol Genet Metab. 2019 Jan;126(1):53-63. doi: 10.1016/j.ymgme.2018.11.001. Epub 2018 Nov 8.
Mol Genet Metab. 2019.
PMID: 30473481
Free PMC article.
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Leukoencephalopathy with Brain stem and Spinal cord involvement and Lactate elevation (LBSL): Report of a new family and a novel DARS2 mutation.
Huang WL, Steenari MR, Barrick R, Simon MT, Chang R, Eftekharian SS, Stover A, Schwartz PH, Latini A, Abdenur JE.
Huang WL, et al. Among authors: eftekharian ss.
Mol Genet Metab Rep. 2023 Dec 2;38:101025. doi: 10.1016/j.ymgmr.2023.101025. eCollection 2024 Mar.
Mol Genet Metab Rep. 2023.
PMID: 38125072
Free PMC article.
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