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Sensitivity, advantages, limitations, and clinical utility of targeted next-generation sequencing panels for the diagnosis of selected lysosomal storage disorders.
Málaga DR, Brusius-Facchin AC, Siebert M, Pasqualim G, Saraiva-Pereira ML, Souza CFM, Schwartz IVD, Matte U, Giugliani R. Málaga DR, et al. Among authors: siebert m. Genet Mol Biol. 2019;42(1 suppl 1):197-206. doi: 10.1590/1678-4685-GMB-2018-0092. Epub 2019 Apr 11. Genet Mol Biol. 2019. PMID: 30985853 Free PMC article.
Analysis of Predictive Biomarkers in Patients With Lung Adenocarcinoma From Southern Brazil Reveals a Distinct Profile From Other Regions of the Country.
Andreis TF, Correa BS, Vianna FS, De-Paris F, Siebert M, Leistner-Segal S, Hahn EC, Ulbrich JM, Rivero LFR, De Oliveira FH, Lorandi V, Ashton-Prolla P, Macedo GS. Andreis TF, et al. Among authors: siebert m. J Glob Oncol. 2019 Sep;5:1-9. doi: 10.1200/JGO.19.00174. J Glob Oncol. 2019. PMID: 31532708 Free PMC article.
Copy number variations in SPAST and ATL1 are rare among Brazilians.
Fussiger H, Pereira BLDS, Padilha JPD, Donis KC; Rare-Genomes Project Consortium; Siebert M, Brusius-Facchin AC, Baldo G, Saute JAM. Fussiger H, et al. Among authors: siebert m. Clin Genet. 2023 May;103(5):580-584. doi: 10.1111/cge.14280. Epub 2023 Jan 15. Clin Genet. 2023. PMID: 36537231
Are Cognitive Changes in Hereditary Spastic Paraplegias Restricted to Complicated Forms?
Jacinto-Scudeiro LA, Dariva Machado G, Ayres A, Burguêz D, Polese-Bonato M, González-Salazar C, Siebert M, Cavalcante França M Jr, Olchik MR, Morales Saute JA. Jacinto-Scudeiro LA, et al. Among authors: siebert m. Front Neurol. 2019 May 24;10:508. doi: 10.3389/fneur.2019.00508. eCollection 2019. Front Neurol. 2019. PMID: 31231294 Free PMC article.
Functional pri-miR-34b/c rs4938723 and KRAS 3'UTR rs61764370 SNPs: Novel phenotype modifiers in Li-Fraumeni Syndrome?
Vieira IA, Pezzi EH, Bandeira IC, Reis LB, de Araújo Rocha YM, Fernandes BV, Siebert M, Miyamoto KN, Siqueira MB, Achatz MI, Galvão HCR, Garcia FAO, Campacci N, Carraro DM, Formiga MN, Vianna FSL, Palmero EI, Macedo GS, Ashton-Prolla P. Vieira IA, et al. Among authors: siebert m. Gene. 2024 Mar 10;898:148069. doi: 10.1016/j.gene.2023.148069. Epub 2023 Dec 7. Gene. 2024. PMID: 38070788
Humoral immune response in adult Brazilian patients with Mucolipidosis III gamma.
Sperb-Ludwig F, Alegra T, Velho RV, Ludwig N, Siebert M, Jobim M, Vairo F, Schwartz IVD. Sperb-Ludwig F, et al. Among authors: siebert m. Genet Mol Biol. 2019 Jul-Sep;42(3):571-573. doi: 10.1590/1678-4685-GMB-2018-0246. Epub 2019 Nov 14. Genet Mol Biol. 2019. PMID: 31188938 Free PMC article.
300 results