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López-Expósito I, Ballesta-Martinez MJ, Bafalliu JA, Vera-Carbonell A, Domingo-Jiménez R, López-González V, Fernández A, Guillén-Navarro E. Array CGH detection of a novel cryptic deletion at 3q13 in a complex chromosome rearrangement. Genomics. 2014 Apr;103(4):288-91. doi: 10.1016/j.ygeno.2014.02.008. PubMed PMID: 24607569.
AÑO: 2014; IF: 2.284
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24607569
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San Román-Monserrat I, Moreno-Flores V, López-Cuenca D, Rodríguez-González-Herrero E, Guillén-Navarro E, Rodríguez-González-Herrero B, Alegría-Fernández M, Poza-Cisneros G, Piñero-Fernández JA, Sornichero-Martínez J, Gimeno-Blanes JR. Comprehensive clinical evaluation of a large Spanish family with Anderson-Fabry disease, novel GLA mutation and severe cardiac phenotype. Med Clin (Barc). 2014 Jun 6;142(11):497-504. doi: 10.1016/j.medcli.2014.01.032. PubMed PMID: 24679964.
AÑO: 2014; IF: 1.417
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Guillén-Navarro E, Sánchez-Iglesias S, Domingo-Jiménez R, Victoria B, Ruiz-Riquelme A, Rábano A, Loidi L, Beiras A, González-Méndez B, Ramos A, López-González V, Ballesta-Martínez MJ, Garrido-Pumar M, Aguiar P, Ruibal A, Requena JR, Araújo-Vilar D. A new seipin-associated neurodegenerative syndrome. J Med Genet. 2013 Jun;50(6):401-9. doi: 10.1136/jmedgenet-2013-101525. PubMed PMID: 23564749.
AÑO: 2013; IF: 5.636
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de la Morena-Barrio ME, Hernández-Caselles T, Corral J, García-López R, Martínez-Martínez I, Pérez-Dueñas B, Altisent C, Sevivas T, Kristensen SR, Guillén-Navarro E, Miñano A, Vicente V, Jaeken J, Lozano ML. GPI-anchor and GPI-anchored protein expression in PMM2-CDG patients. Orphanet J Rare Dis. 2013 Oct 20;8:170. doi: 10.1186/1750-1172-8-170. PubMed PMID: 24139637; PubMed Central PMCID: PMC4016514.
AÑO: 2013; IF: 4.123
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AÑO: 2013; IF: 3.342
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