Filtros

Buscador
Año
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
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
Sanchez-Soler MJ, Lopez-Gonzalez V, Ballesta-Martinez MJ, Galvez-Pradillo J, Domingo-Martinez R, Perez-Fernandez V, Guillen-Navarro E. [Assessment of psychomotor development of Spanish children up to 3 years of age conceived by assisted reproductive techniques: Prospective matched cohort study]. An Pediatr (Engl Ed). 2020 Apr;92(4):200-207. doi: 10.1016/j.anpedi.2019.07.006. Epub 2019 Sep 2. Spanish. PubMed PMID: 31488383.
AÑO: 2020; IF: 1.5
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
Sanchez-Soler MJ, Serrano-Anton AT, Lopez-Gonzalez V, Ballesta Martinez MJ, Guillen-Navarro E. [First Spanish case of syndromic intellectual disability with dysmorphic facies, seizures, and distal limb anomalies caused by balletic mutations in the OTUD6B gene]. An Pediatr (Engl Ed). 2020 Mar;92(3):169-171. doi: 10.1016/j.anpedi.2019.03.010. Epub 2019 May 27. No abstract available. Spanish. PubMed PMID: 31147255.
AÑO: 2020; IF: 1.5