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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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2020 | 1 |
2022 | 1 |
2024 | 0 |
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Diagnostic Odyssey in an Adult Patient with Ophthalmologic Abnormalities and Hearing Loss: Contribution of RNA-Seq to the Diagnosis of a PEX1 Deficiency.
Int J Mol Sci. 2022 Oct 15;23(20):12367. doi: 10.3390/ijms232012367.
Int J Mol Sci. 2022.
PMID: 36293220
Free PMC article.
Physiopathological Bases of the Disease Caused by HACE1 Mutations: Alterations in Autophagy, Mitophagy and Oxidative Stress Response.
Ugarteburu O, Sánchez-Vilés M, Ramos J, Barcos-Rodríguez T, Garrabou G, García-Villoria J, Ribes A, Tort F.
Ugarteburu O, et al.
J Clin Med. 2020 Mar 26;9(4):913. doi: 10.3390/jcm9040913.
J Clin Med. 2020.
PMID: 32225089
Free PMC article.
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