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Year Number of Results
2017 1
2018 1
2019 4
2020 2
2021 3
2022 1
2024 2

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14 results

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Page 1
Diagnosis of Mucopolysaccharidoses.
Kubaski F, de Oliveira Poswar F, Michelin-Tirelli K, Burin MG, Rojas-Málaga D, Brusius-Facchin AC, Leistner-Segal S, Giugliani R. Kubaski F, et al. Among authors: rojas malaga d. Diagnostics (Basel). 2020 Mar 22;10(3):172. doi: 10.3390/diagnostics10030172. Diagnostics (Basel). 2020. PMID: 32235807 Free PMC article. Review.
Precision Medicine for Lysosomal Disorders.
Pinto E Vairo F, Rojas Málaga D, Kubaski F, Fischinger Moura de Souza C, de Oliveira Poswar F, Baldo G, Giugliani R. Pinto E Vairo F, et al. Among authors: rojas malaga d. Biomolecules. 2020 Jul 26;10(8):1110. doi: 10.3390/biom10081110. Biomolecules. 2020. PMID: 32722587 Free PMC article. Review.
Genotype-phenotype studies in a large cohort of Brazilian patients with Hunter syndrome.
Josahkian JA, Brusius-Facchin AC, Netto ABO, Leistner-Segal S, Málaga DR, Burin MG, Michelin-Tirelli K, Trapp FB, Cardoso-Dos-Santos AC, Ribeiro EM, Kim CA, de Siqueira ACM, Santos ML, do Valle DA, da Silva RTB, Horovitz DDG, de Medeiros PFV, de Souza CFM, Giuliani LR, Miguel DSCG, Santana-da-Silva LC, Galera MF, Giugliani R. Josahkian JA, et al. Among authors: malaga dr. Am J Med Genet C Semin Med Genet. 2021 Sep;187(3):349-356. doi: 10.1002/ajmg.c.31915. Epub 2021 May 7. Am J Med Genet C Semin Med Genet. 2021. PMID: 33960103
Genes, exposures, and interactions on preterm birth risk: an exploratory study in an Argentine population.
Elias DE, Santos MR, Campaña H, Poletta FA, Heisecke SL, Gili JA, Ratowiecki J, Cosentino V, Uranga R, Málaga DR, Netto ABO, Brusius-Facchin AC, Saleme C, Rittler M, Krupitzki HB, Camelo JSL, Gimenez LG. Elias DE, et al. Among authors: malaga dr. J Community Genet. 2022 Dec;13(6):557-565. doi: 10.1007/s12687-022-00605-z. Epub 2022 Aug 17. J Community Genet. 2022. PMID: 35976607 Free PMC article.
Gene-environment interactions and preterm birth predictors: A Bayesian network approach.
Elias DE, Santos MR, Campaña H, Poletta FA, Heisecke SL, Gili JA, Ratowiecki J, Cosentino VR, Uranga R, Málaga DR, Oliveira Netto AB, Brusius-Facchin AC, Saleme C, Rittler M, Krupitzki HB, Camelo JSL, Gimenez LG. Elias DE, et al. Among authors: malaga dr. Genet Mol Biol. 2024 Jan 19;46(4):e20230090. doi: 10.1590/1678-4685-GMB-2023-0090. eCollection 2024. Genet Mol Biol. 2024. PMID: 38285431 Free PMC article.
Updated birth prevalence and relative frequency of mucopolysaccharidoses across Brazilian regions.
Josahkian JA, Trapp FB, Burin MG, Michelin-Tirelli K, Magalhães APPS, Sebastião FM, Bender F, Mari JF, Brusius-Facchin AC, Leistner-Segal S, Málaga DR, Giugliani R. Josahkian JA, et al. Among authors: malaga dr. Genet Mol Biol. 2021 Jan 27;44(1):e20200138. doi: 10.1590/1678-4685-GMB-2020-0138. eCollection 2021. Genet Mol Biol. 2021. PMID: 33503199 Free PMC article.
MLPA followed by target-NGS to detect mutations in the dystrophin gene of Peruvian patients suspected of DMD/DMB.
Guevara-Fujita ML, Huaman-Dianderas F, Obispo D, Sánchez R, Barrenechea V, Rojas-Málaga D, Estrada-Cuzcano A, Trubnykova M, Cornejo-Olivas M, Marca V, Gallardo B, Dueñas-Roque M, Protzel A, Castañeda C, Abarca H, Celis L, La Serna-Infantes J, Fujita R. Guevara-Fujita ML, et al. Among authors: rojas malaga d. Mol Genet Genomic Med. 2021 Sep;9(9):e1759. doi: 10.1002/mgg3.1759. Epub 2021 Jul 29. Mol Genet Genomic Med. 2021. PMID: 34327855 Free PMC article.
14 results