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Barreda-Sanchez M, Buendia-Martinez J, Glover-Lopez G, Carazo-Diaz C, Ballesta-Martinez MJ, Lopez-Gonzalez V, Sanchez-Soler MJ, Rodriguez-Pena L, Serrano-Anton AT, Gil-Ferrer R, Martinez-Romero MDC, Carbonell-Meseguer P, Guillen-Navarro E. High penetrance of acute intermittent porphyria in a Spanish founder mutation population and CYP2D6 genotype as a susceptibility factor. Orphanet J Rare Dis. 2019 Feb 26;14(1):59. doi: 10.1186/s13023-019-1031-7. PubMed PMID: 30808393; PubMed Central PMCID: PMC6390611.
AÑO: 2019; IF: 3.523
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30808393
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Martinez-Romero MC, Ballesta-Martinez MJ, Lopez-Gonzalez V, Sanchez-Soler MJ, Serrano-Anton AT, Barreda-Sanchez M, Rodriguez-Pena L, Martinez-Menchon MT, Frias-Iniesta J, Sanchez-Pedreno P, Carbonell-Meseguer P, Glover-Lopez G, Guillen-Navarro E; GIEDE (Spanish multidisciplinary research group for ectodermal dysplasia). EDA, EDAR, EDARADD and WNT10A allelic variants in patients with ectodermal derivative impairment in the Spanish population. Orphanet J Rare Dis. 2019 Dec 3;14(1):281. doi: 10.1186/s13023-019-1251-x. PubMed PMID: 31796081; PubMed Central PMCID: PMC6892193.
AÑO: 2019; IF: 3.523
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Perez-Sanchez I, Sabater-Molina M, Rocamora MEN, Glover G, Escudero F, de Mingo Casado P, Gimeno-Blanes JR. Phenotypic Characterization of a Family With An In-frame Deletion in the DMD Gene and Variable Penetrance. Curr Gene Ther. 2018;18(4):246-251. doi: 10.2174/1566523218666180709125346. PubMed PMID: 29984652.
AÑO: 2018; IF: 2.218
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Villalona S, Glover-López G, Ortega-García JA, Moya-Quiles R, Mondejar-López P, Martínez-Romero MC, Rigabert-Montiel M, Pastor-Vivero MD, Sánchez-Solís M. R248G cystic fibrosis transmembrane conductance regulator mutation in three siblings presenting with recurrent acute pancreatitis and reproductive issues: a case series. J Med Case Rep. 2017 Feb 15;11(1):42. doi: 10.1186/s13256-016-1181-3. PubMed PMID: 28196530; PubMed Central PMCID: PMC5310058.
AÑO: 2017
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Sánchez-Soler MJ, Barreda-Sánchez M, Ballesta-Martínez MJ, Glóver G, Guillén-Navarro E. [Acute intermittent porphyria in a paediatric population in the region of Murcia: Phenotype and prevalence]. An Pediatr (Barc). 2016 Feb;84(2):114-5. doi: 10.1016/j.anpedi.2015.09.002. Epub 2015 Oct 20. Spanish. PubMed PMID: 26497633.
AÑO: 2016; IF: 1.14
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