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The E180splice mutation in the GHR gene causing Laron syndrome: witness of a Sephardic Jewish exodus from the Iberian Peninsula to the New World?
Gonçalves FT, Fridman C, Pinto EM, Guevara-Aguirre J, Shevah O, Rosembloom AL, Hwa V, Cassorla F, Rosenfeld RG, Lins TS, Damiani D, Arnhold IJ, Laron Z, Jorge AA. Gonçalves FT, et al. Among authors: jorge aa. Am J Med Genet A. 2014 May;164A(5):1204-8. doi: 10.1002/ajmg.a.36444. Epub 2014 Mar 24. Am J Med Genet A. 2014. PMID: 24664892
[Phenotype variability in Noonan syndrome patients with and without PTPN11 mutation].
Ferreira LV, Souza SA, Montenegro LR, Arnhold IJ, Pasqualini T, Heinrich JJ, Keselman AC, Mendonça BB, Jorge AA. Ferreira LV, et al. Among authors: jorge aa. Arq Bras Endocrinol Metabol. 2007 Apr;51(3):450-6. doi: 10.1590/s0004-27302007000300014. Arq Bras Endocrinol Metabol. 2007. PMID: 17546245 Portuguese.
188 results