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Diagnosis of mitochondrial disorders applying massive pyrosequencing.
Kauffman MA, Gonzlez-Morón D, Consalvo D, Westergaard G, Vazquez M, Mancini E, Taratuto AL, Rey R, Kochen S. Kauffman MA, et al. Among authors: consalvo d. Mol Biol Rep. 2012 Jun;39(6):6655-60. doi: 10.1007/s11033-012-1471-9. Mol Biol Rep. 2012. PMID: 22302390
Germline and somatic mutations in cortical malformations: Molecular defects in Argentinean patients with neuronal migration disorders.
González-Morón D, Vishnopolska S, Consalvo D, Medina N, Marti M, Córdoba M, Vazquez-Dusefante C, Claverie S, Rodríguez-Quiroga SA, Vega P, Silva W, Kochen S, Kauffman MA. González-Morón D, et al. Among authors: consalvo d. PLoS One. 2017 Sep 27;12(9):e0185103. doi: 10.1371/journal.pone.0185103. eCollection 2017. PLoS One. 2017. PMID: 28953922 Free PMC article.
57 results