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genotype phenotype correlation
7
"CYP21A2 mutation update: Comprehensive analysis of databases and published genetic variants" (2018) Simonetti, L.;Bruque, C.D.;Fernández, C.S. (...)Dain, L. Human Mutation. 39(1):5-22
"Germline and somatic mutations in cortical malformations: Molecular defects in Argentinean patients with neuronal migration disorders" (2017) González-Morón, D.;Vishnopolska, S.;Consalvo, D. (...)Kauffman, M.A. PLoS ONE. 12(9)
"Clinical characteristics and therapeutic responses in patients with germ-line AIP mutations and pituitary adenomas: An international collaborative study" (2010) Daly, A.F.;Tichomirowa, M.A.;Petrossians, P. (...)Beckers, A. Journal of Clinical Endocrinology and Metabolism. 95(11):E373-E383
"CYP2D6 polymorphisms in patients with porphyrias" (2006) Lavandera, J.V.; Parera, V.E.; Batlle, A.; Buzaleh, A.M. Molecular Medicine. 12(9-10):259-263
"Classical and nonclassical 21-hydroxylase deficiency: A molecular study of Argentine patients" (2002) Dain, L.B.;Buzzalino, N.D.;Oneto, A. (...)Alba, L.G. Clinical Endocrinology. 56(2):239-245