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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2006 3
2007 6
2008 3
2009 4
2010 4
2011 7
2012 5
2013 4
2014 10
2015 4
2016 2
2017 5
2018 3
2019 7
2020 5
2021 7
2022 4
2023 1
2024 0

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75 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: leistner segal s. Diagnostics (Basel). 2020 Mar 22;10(3):172. doi: 10.3390/diagnostics10030172. Diagnostics (Basel). 2020. PMID: 32235807 Free PMC article. Review.
Diagnostic and treatment strategies in mucopolysaccharidosis VI.
Vairo F, Federhen A, Baldo G, Riegel M, Burin M, Leistner-Segal S, Giugliani R. Vairo F, et al. Among authors: leistner segal s. Appl Clin Genet. 2015 Oct 30;8:245-55. doi: 10.2147/TACG.S68650. eCollection 2015. Appl Clin Genet. 2015. PMID: 26586959 Free PMC article. Review.
Population medical genetics: translating science to the community.
Giugliani R, Bender F, Couto R, Bochernitsan A, Brusius-Facchin AC, Burin M, Amorim T, Acosta AX, Purificação A, Leistner-Segal S, Saraiva-Pereira ML, Jardim LB, Matte U, Riegel M, Cardoso-Dos-Santos AC, Rodrigues G, Oliveira MZ, Tagliani-Ribeiro A, Heck S, Dresch V, Schuler-Faccini L, Kubaski F. Giugliani R, et al. Among authors: leistner segal s. Genet Mol Biol. 2019;42(1 suppl 1):312-320. doi: 10.1590/1678-4685-GMB-2018-0096. Epub 2019 Apr 11. Genet Mol Biol. 2019. PMID: 30985854 Free PMC article.
Sanfilippo syndrome type B: Analysis of patients diagnosed by the MPS Brazil Network.
Montenegro YHA, de Souza CFM, Kubaski F, Trapp FB, Burin MG, Michelin-Tirelli K, Leistner-Segal S, Facchin ACB, Medeiros FS, Giugliani L, Ribeiro EM, Lourenço CM, Cardoso-Dos-Santos AC, Ribeiro MG, Kim CA, Castro MAA, Embiruçu EK, Steiner CE, Moreira MLC, Montano HQ, Baldo G, Giugliani R. Montenegro YHA, et al. Among authors: leistner segal s. Am J Med Genet A. 2022 Mar;188(3):760-767. doi: 10.1002/ajmg.a.62572. Epub 2021 Nov 22. Am J Med Genet A. 2022. PMID: 34806811
Is the gut microbiota dysbiotic in patients with classical homocystinuria?
Rizowy GM, Poloni S, Colonetti K, Donis KC, Dobbler PT, Leistner-Segal S, Roesch LFW, Schwartz IVD. Rizowy GM, et al. Among authors: leistner segal s. Biochimie. 2020 Jun;173:3-11. doi: 10.1016/j.biochi.2020.02.013. Epub 2020 Feb 24. Biochimie. 2020. PMID: 32105814
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: leistner segal s. 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
75 results