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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
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2017 | 1 |
2018 | 1 |
2019 | 2 |
2020 | 1 |
2024 | 0 |
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The genotypic and phenotypic spectrum of MTO1 deficiency.
Mol Genet Metab. 2018 Jan;123(1):28-42. doi: 10.1016/j.ymgme.2017.11.003. Epub 2017 Nov 15.
Mol Genet Metab. 2018.
PMID: 29331171
Free PMC article.
Targeted next generation sequencing identifies novel pathogenic variants and provides molecular diagnoses in a cohort of pediatric and adult patients with unexplained mitochondrial dysfunction.
Nogueira C, Silva L, Pereira C, Vieira L, Leão Teles E, Rodrigues E, Campos T, Janeiro P, Gaspar A, Dupont J, Bandeira A, Martins E, Magalhães M, Sequeira S, Vieira JP, Santos H, Vilarinho S, Vilarinho L.
Nogueira C, et al.
Mitochondrion. 2019 Jul;47:309-317. doi: 10.1016/j.mito.2019.02.006. Epub 2019 Mar 1.
Mitochondrion. 2019.
PMID: 30831263
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Identification of extremely rare mitochondrial disorders by whole exome sequencing.
Seo GH, Oh A, Kim EN, Lee Y, Park J, Kim T, Lim YM, Kim GH, Kim CJ, Yoo HW, Kang E, Lee BH.
Seo GH, et al.
J Hum Genet. 2019 Nov;64(11):1117-1125. doi: 10.1038/s10038-019-0660-y. Epub 2019 Aug 26.
J Hum Genet. 2019.
PMID: 31451716
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Novel Mitochondrial Translation Optimizer-1 Mutations as a Cause of Hereditary Optic Neuropathy.
Li E, Emmanuele V, Testa F, Moreno CAM, Hirano M, Lesser RL.
Li E, et al.
J Neuroophthalmol. 2020 Sep;40(3):406-410. doi: 10.1097/WNO.0000000000000858.
J Neuroophthalmol. 2020.
PMID: 31842146
No abstract available.
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