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

Year Number of Results
2012 1
2013 1
2014 1
2015 2
2016 1
2018 1
2019 1
2020 1
2021 1
2022 0
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Page 1
Next-Generation Sequencing Gene Panels and "Solo" Clinical Exome Sequencing Applied in Structurally Abnormal Fetuses.
Pauta M, Campos B, Segura-Puimedon M, Arca G, Nadal A, Tubau A, Perez SP, Marimon E, Martín L, López-Quesada E, Sabrià J, Muñoz B, Garcia E, Paz Y Miño F, Borobio V, Gomez O, Eixarch E, Lopez M, Comas Rovira M, Borrell A. Pauta M, et al. Among authors: segura puimedon m. Fetal Diagn Ther. 2021;48(10):746-756. doi: 10.1159/000519701. Epub 2021 Nov 12. Fetal Diagn Ther. 2021. PMID: 34775388 Free article.
Further delineation of the phenotype caused by loss of function mutations in PRMT7.
Valenzuela I, Segura-Puimedon M, Rodríguez-Santiago B, Fernández-Alvarez P, Vendrell T, Armengol L, Tizzano E. Valenzuela I, et al. Among authors: segura puimedon m. Eur J Med Genet. 2019 Mar;62(3):182-185. doi: 10.1016/j.ejmg.2018.07.007. Epub 2018 Jul 10. Eur J Med Genet. 2019. PMID: 30006058 Review.
Metabolic abnormalities in Williams-Beuren syndrome.
Palacios-Verdú MG, Segura-Puimedon M, Borralleras C, Flores R, Del Campo M, Campuzano V, Pérez-Jurado LA. Palacios-Verdú MG, et al. Among authors: segura puimedon m. J Med Genet. 2015 Apr;52(4):248-55. doi: 10.1136/jmedgenet-2014-102713. Epub 2015 Feb 6. J Med Genet. 2015. PMID: 25663682
Reduction of NADPH-oxidase activity ameliorates the cardiovascular phenotype in a mouse model of Williams-Beuren Syndrome.
Campuzano V, Segura-Puimedon M, Terrado V, Sánchez-Rodríguez C, Coustets M, Menacho-Márquez M, Nevado J, Bustelo XR, Francke U, Pérez-Jurado LA. Campuzano V, et al. Among authors: segura puimedon m. PLoS Genet. 2012 Feb;8(2):e1002458. doi: 10.1371/journal.pgen.1002458. Epub 2012 Feb 2. PLoS Genet. 2012. PMID: 22319452 Free PMC article.