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Results by year
Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2013 | 2 |
2019 | 1 |
2020 | 2 |
2021 | 1 |
2024 | 0 |
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6 results
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Page 1
Role of RNA in Molecular Diagnosis of MADD Patients.
Biomedicines. 2021 May 4;9(5):507. doi: 10.3390/biomedicines9050507.
Biomedicines. 2021.
PMID: 34064479
Free PMC article.
Assessing Lysosomal Disorders in the NGS Era: Identification of Novel Rare Variants.
Encarnação M, Coutinho MF, Silva L, Ribeiro D, Ouesleti S, Campos T, Santos H, Martins E, Cardoso MT, Vilarinho L, Alves S.
Encarnação M, et al. Among authors: silva l.
Int J Mol Sci. 2020 Sep 1;21(17):6355. doi: 10.3390/ijms21176355.
Int J Mol Sci. 2020.
PMID: 32883051
Free PMC article.
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Molecular Characterization of a Novel Splicing Mutation underlying Mucopolysaccharidosis (MPS) type VI-Indirect Proof of Principle on Its Pathogenicity.
Coutinho MF, Encarnação M, Matos L, Silva L, Ribeiro D, Santos JI, Prata MJ, Vilarinho L, Alves S.
Coutinho MF, et al. Among authors: silva l.
Diagnostics (Basel). 2020 Jan 21;10(2):58. doi: 10.3390/diagnostics10020058.
Diagnostics (Basel). 2020.
PMID: 31973102
Free PMC article.
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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. Among authors: silva l.
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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Acute effects of cocaine, morphine and their combination on bioenergetic function and susceptibility to oxidative stress of rat liver mitochondria.
Cunha-Oliveira T, Silva L, Silva AM, Moreno AJ, Oliveira CR, Santos MS.
Cunha-Oliveira T, et al. Among authors: silva l.
Life Sci. 2013 Jul 10;92(24-26):1157-64. doi: 10.1016/j.lfs.2013.04.016. Epub 2013 May 13.
Life Sci. 2013.
PMID: 23680378
Free article.
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Mitochondrial complex I dysfunction induced by cocaine and cocaine plus morphine in brain and liver mitochondria.
Cunha-Oliveira T, Silva L, Silva AM, Moreno AJ, Oliveira CR, Santos MS.
Cunha-Oliveira T, et al. Among authors: silva l.
Toxicol Lett. 2013 Jun 7;219(3):298-306. doi: 10.1016/j.toxlet.2013.03.025. Epub 2013 Mar 29.
Toxicol Lett. 2013.
PMID: 23542814
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