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Clinicogenetic characterization and response to disease-modifying therapies in spinal muscular atrophy: real-world experience from a reference center in Southern Brazil.
de Albuquerque ALA, Chadanowicz JK, Bevilacqua IP, Staub ALP, Winckler PB, da Silva PZ, Fagondes SC, Ferrari RS, Trojahn CDO, Sacharuk VZ, Kowalski TW, Donis KC, Becker MM, Saute JAM. de Albuquerque ALA, et al. Among authors: kowalski tw. J Pediatr (Rio J). 2025 Jan-Feb;101(1):38-45. doi: 10.1016/j.jped.2024.07.011. Epub 2024 Oct 16. J Pediatr (Rio J). 2025. PMID: 39426797 Free article.
Brazilian women in Bioinformatics: Challenges and opportunities.
Kowalski TW, Giudicelli GC, Pinho MCF, Rockenbach MK, Maciel-Fiuza MF, Recamonde-Mendoza M, Vianna FSL. Kowalski TW, et al. Genet Mol Biol. 2024 Jan 22;46(3 Suppl 1):e20230134. doi: 10.1590/1678-4685-GMB-2023-0134. eCollection 2024. Genet Mol Biol. 2024. PMID: 38259034 Free PMC article.
Exploring the frequency of a TP53 polyadenylation signal variant in tumor DNA from patients diagnosed with lung adenocarcinomas, sarcomas and uterine leiomyomas.
Vieira IA, Viola GD, Pezzi EH, Kowalski TW, Fernandes BV, Andreis TF, Bom N, Sonnenstrahl G, Rocha YMA, Corrêa BDS, Donatti LM, Sant'Anna GDS, Corleta HVE, Brum IS, Rosset C, Vianna FSL, Macedo GS, Palmero EI, Ashton-Prolla P. Vieira IA, et al. Among authors: kowalski tw. Genet Mol Biol. 2024 Jan 19;46(3 Suppl 1):e20230133. doi: 10.1590/1678-4685-GMB-2023-0133. eCollection 2024. Genet Mol Biol. 2024. PMID: 38252059 Free PMC article.
The impact of thalidomide use in birth defects in Brazil.
Sales Luiz Vianna F, Kowalski TW, Fraga LR, Sanseverino MT, Schuler-Faccini L. Sales Luiz Vianna F, et al. Among authors: kowalski tw. Eur J Med Genet. 2017 Jan;60(1):12-15. doi: 10.1016/j.ejmg.2016.09.015. Epub 2016 Sep 13. Eur J Med Genet. 2017. PMID: 27638330
From bench to in silico and backwards: What have we done on genetics of recurrent pregnancy loss and implantation failure and where should we go next?
Gomes FG, Boquett JA, Kowalski TW, Bremm JM, Michels MS, Pretto L, Rockenbach MK, Vianna FSL, Schuler-Faccini L, Sanseverino MTV, Fraga LR. Gomes FG, et al. Among authors: kowalski tw. Genet Mol Biol. 2024 Aug 26;46(3 Suppl 1):e20230127. doi: 10.1590/1678-4685-GMB-2023-0127. eCollection 2024. Genet Mol Biol. 2024. PMID: 39186710 Free PMC article.
Music genetics research: Association with musicality of a polymorphism in the AVPR1A gene.
Mariath LM, Silva AM, Kowalski TW, Gattino GS, Araujo GA, Figueiredo FG, Tagliani-Ribeiro A, Roman T, Vianna FSL, Schuler-Faccini L, Schuch JB. Mariath LM, et al. Among authors: kowalski tw. Genet Mol Biol. 2017 Apr-Jun;40(2):421-429. doi: 10.1590/1678-4685-GMB-2016-0021. Epub 2017 May 22. Genet Mol Biol. 2017. PMID: 28534928 Free PMC article.
45 results