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Items: 3

1.

Major Contribution of Genomic Copy Number Variation in Syndromic Congenital Heart Disease: The Use of MLPA as the First Genetic Test.

Monteiro RAC, de Freitas ML, Vianna GS, de Oliveira VT, Pietra RX, Ferreira LCA, Rocha PPO, da S Gonçalves M, da C César G, de S Lima J, Medeiros PFV, Mazzeu JF, Jehee FS.

Mol Syndromol. 2017 Aug;8(5):227-235. doi: 10.1159/000477226. Epub 2017 Jun 14.

2.

Dual molecular diagnosis contributes to atypical Prader-Willi phenotype in monozygotic twins.

Jehee FS, de Oliveira VT, Gurgel-Giannetti J, Pietra RX, Rubatino FVM, Carobin NV, Vianna GS, de Freitas ML, Fernandes KS, Ribeiro BSV, Brüggenwirth HT, Ali-Amin R; Baylor-Hopkins Center for Mendelian Genomics, White JJ, Akdemir ZC, Jhangiani SN, Gibbs RA, Lupski JR, Varela MC, Koiffmann C, Rosenberg C, Carvalho CMB.

Am J Med Genet A. 2017 Sep;173(9):2451-2455. doi: 10.1002/ajmg.a.38315. Epub 2017 Jun 20.

3.

Flavonoids, Thyroid Iodide Uptake and Thyroid Cancer-A Review.

Gonçalves CFL, de Freitas ML, Ferreira ACF.

Int J Mol Sci. 2017 Jun 12;18(6). pii: E1247. doi: 10.3390/ijms18061247. Review.

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