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Maortua H, Martínez-Bouzas C, García-Ribes A, Martínez MJ, Guillen E, Domingo MR, Calvo MT, Guitart M, Gabau E, Botella MP, Gener B, Rubio I, López-Aríztegui MA, Tejada MI. MECP2 gene study in a large cohort: testing of 240 female patients and 861 healthy controls (519 females and 342 males). J Mol Diagn. 2013 Sep;15(5):723-9. doi: 10.1016/j.jmoldx.2013.05.002. PubMed PMID: 23810759.
AÑO: 2013; IF: 3.955
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23810759
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Vera-Carbonell A, López-González V, Bafalliu JA, Piñero-Fernández J, Susmozas J, Sorli M, López-Pérez R, Fernández A, Guillén-Navarro E, López-Expósito I. Pre- and postnatal findings in a patient with a novel rec(8)dup(8q)inv(8)(p23.2q22.3) associated with San Luis Valley syndrome. Am J Med Genet A. 2013 Sep;161A(9):2369-75. doi: 10.1002/ajmg.a.36103. PubMed PMID: 23894102.
AÑO: 2013; IF: 2.048
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Plaisancié J, Bailleul-Forestier I, Gaston V, Vaysse F, Lacombe D, Holder-Espinasse M, Abramowicz M, Coubes C, Plessis G, Faivre L, Demeer B, Vincent-Delorme C, Dollfus H, Sigaudy S, Guillén-Navarro E, Verloes A, Jonveaux P, Martin-Coignard D, Colin E, Bieth E, Calvas P, Chassaing N. Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia. Am J Med Genet A. 2013 Apr;161A(4):671-8. doi: 10.1002/ajmg.a.35747. PubMed PMID: 23401279.
AÑO: 2013; IF: 2.048
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Guillén-Navarro E, Blasco AJ, Gutierrez-Solana LG, Couce ML, Cancho-Candela R, Lázaro P; grupo de trabajo Hunter España.. [Clinical practice guideline for the management of Hunter syndrome. Hunter España working group]. Med Clin (Barc). 2013 Nov 16;141(10):453.e1-13. doi: 10.1016/j.medcli.2013.07.010. Spanish. PubMed PMID: 24060500.
AÑO: 2013; IF: 1.277
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AÑO: 2013; IF: 0.096
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