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3,893 results

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Page 1
Genomic imbalances in syndromic congenital heart disease.
Molck MC, Simioni M, Paiva Vieira T, Sgardioli IC, Paoli Monteiro F, Souza J, Fett-Conte AC, Félix TM, Lopes Monlléo I, Gil-da-Silva-Lopes VL. Molck MC, et al. Among authors: souza j. J Pediatr (Rio J). 2017 Sep-Oct;93(5):497-507. doi: 10.1016/j.jped.2016.11.007. Epub 2017 Mar 21. J Pediatr (Rio J). 2017. PMID: 28336264 Free article.
Defining new guidelines for screening the 22q11.2 deletion based on a clinical and dysmorphologic evaluation of 194 individuals and review of the literature.
Monteiro FP, Vieira TP, Sgardioli IC, Molck MC, Damiano AP, Souza J, Monlleó IL, Fontes MI, Fett-Conte AC, Félix TM, Leal GF, Ribeiro EM, Banzato CE, Dantas Cde R, Lopes-Cendes I, Gil-da-Silva-Lopes VL. Monteiro FP, et al. Among authors: souza j. Eur J Pediatr. 2013 Jul;172(7):927-45. doi: 10.1007/s00431-013-1964-0. Epub 2013 Feb 26. Eur J Pediatr. 2013. PMID: 23440478
Atypical copy number abnormalities in 22q11.2 region: report of three cases.
Molck MC, Vieira TP, Sgardioli IC, Simioni M, Dos Santos AP, Souza J, Monteiro FP, Gil-da-Silva-Lopes VL. Molck MC, et al. Among authors: souza j. Eur J Med Genet. 2013 Sep;56(9):515-20. doi: 10.1016/j.ejmg.2013.07.002. Epub 2013 Jul 23. Eur J Med Genet. 2013. PMID: 23886712 Free article.
Preliminary Analysis of the Nonsynonymous Polymorphism rs17563 in BMP4 Gene in Brazilian Population Suggests Protection for Nonsyndromic Cleft Lip and Palate.
Araújo TK, Simioni M, Félix TM, de Souza LT, Fontes MÍ, Monlleó IL, Souza J, Fett-Conte AC, Secolin R, Lopes-Cendes I, Maurer-Morelli CV, Gil-da-Silva-Lopes VL. Araújo TK, et al. Among authors: souza j. Plast Surg Int. 2012;2012:247104. doi: 10.1155/2012/247104. Epub 2012 Nov 27. Plast Surg Int. 2012. PMID: 23227324 Free PMC article.
Targeted molecular investigation in patients within the clinical spectrum of Auriculocondylar syndrome.
Romanelli Tavares VL, Zechi-Ceide RM, Bertola DR, Gordon CT, Ferreira SG, Hsia GS, Yamamoto GL, Ezquina SA, Kokitsu-Nakata NM, Vendramini-Pittoli S, Freitas RS, Souza J, Raposo-Amaral CA, Zatz M, Amiel J, Guion-Almeida ML, Passos-Bueno MR. Romanelli Tavares VL, et al. Among authors: souza j. Am J Med Genet A. 2017 Apr;173(4):938-945. doi: 10.1002/ajmg.a.38101. Am J Med Genet A. 2017. PMID: 28328130
3,893 results