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Sabater-Molina M, Guillén-Navarro E, García-Molina E, Ballesta-Martínez MJ, Escudero F, Ruiz-Espejo F. Barth syndrome in adulthood: a clinical case. Rev Esp Cardiol (Engl Ed). 2013 Jan;66(1):68-70. doi: 10.1016/j.recesp.2012.05.015. English, Spanish. PubMed PMID: 22999963.
AÑO: 2013; IF: 3.342
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22999963
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Vera-Carbonell A, Moya-Quiles MR, Ballesta-Martínez M, López-González V, Bafallíu JA, Guillén-Navarro E, López-Expósito I. Rapp-Hodgkin syndrome and SHFM1 patients: delineating the p63-Dlx5/Dlx6 pathway. Gene. 2012 Apr 15;497(2):292-7. doi: 10.1016/j.gene.2012.01.088. Epub 2012 Feb 9. PubMed PMID: 22342398.
AÑO: 2012; IF: 2.196
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Puig-Hervás MT, Temtamy S, Aglan M, Valencia M, Martínez-Glez V, Ballesta-Martínez MJ, López-González V, Ashour AM, Amr K, Pulido V, Guillén-Navarro E, Lapunzina P, Caparrós-Martín JA, Ruiz-Perez VL. Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome--osteogenesis imperfecta phenotypic spectrum. Hum Mutat. 2012 Oct;33(10):1444-9. doi: 10.1002/humu.22133. Epub 2012 Jul 5. PubMed PMID: 22689593.
AÑO: 2012; IF: 5.213
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Moya-Quiles MR, Ballesta-Martínez MJ, López-González V, Glover G, Guillén-Navarro E. A compound heterozygous mutation in the EDAR gene in a Spanish family with autosomal recessive hypohidrotic ectodermal dysplasia. Arch Dermatol Res. 2010 May;302(4):307-10. doi: 10.1007/s00403-009-1013-z. Epub 2009 Dec 24. PubMed PMID: 20033817.
AÑO: 2010; IF: 2.011
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Vera-Carbonell A, López-Expósito I, Bafalliu JA, Ballesta-Martínez M, Glóver G, Llópis C, Moya-Quiles R, Suela J, Fernández A, Guillén-Navarro E. Molecular characterization of a new patient with a non-recurrent inv dup del 2q and review of the mechanisms for this rearrangement. Am J Med Genet A. 2010 Oct;152A(10):2670-80. doi: 10.1002/ajmg.a.33613. Review. PubMed PMID: 20799321.
AÑO: 2010; IF: 2.505
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