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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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23894102
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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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Czeschik JC, Bauer P, Buiting K, Dufke C, Guillén-Navarro E, Johnson DS, Koehler U, López-González V, Lüdecke HJ, Male A, Morrogh D, Rieß A, Tzschach A, Wieczorek D, Kuechler A. X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity. Orphanet J Rare Dis. 2013 Sep 21;8:146. doi: 10.1186/1750-1172-8-146. PubMed PMID: 24053514; PubMed Central PMCID: PMC4015352.
AÑO: 2013; IF: 3.958
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Wieczorek D, Bögershausen N, Beleggia F, Steiner-Haldenstätt S, Pohl E, Li Y, Milz E, Martin M, Thiele H, Altmüller J, Alanay Y, Kayserili H, Klein-Hitpass L, Böhringer S, Wollstein A, Albrecht B, Boduroglu K, Caliebe A, Chrzanowska K, Cogulu O, Cristofoli F, Czeschik JC, Devriendt K, Dotti MT, Elcioglu N, Gener B, Goecke TO, Krajewska-Walasek M, Guillén-Navarro E, Hayek J, Houge G, Kilic E, Simsek-Kiper PÖ, López-González V, Kuechler A, Lyonnet S, Mari F, Marozza A, Mathieu Dramard M, Mikat B, Morin G, Morice-Picard F, Ozkinay F, Rauch A, Renieri A, Tinschert S, Utine GE, Vilain C, Vivarelli R, Zweier C, Nürnberg P, Rahmann S, Vermeesch J, Lüdecke HJ, Zeschnigk M, Wollnik B. A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling. Hum Mol Genet. 2013 Dec 20;22(25):5121-35. doi: 10.1093/hmg/ddt366. PubMed PMID: 23906836.
AÑO: 2013; IF: 6.677
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Guillén-Navarro E, Domingo-Jiménez MR, Alcalde-Martín C, Cancho-Candela R, Couce ML, Galán-Gómez E, Alonso-Luengo O. Clinical manifestations in female carriers of mucopolysaccharidosis type II: a Spanish cross-sectional study. Orphanet J Rare Dis. 2013 Jun 25;8:92. doi: 10.1186/1750-1172-8-92. PubMed PMID: 23800320; PubMed Central PMCID: PMC3697996.
AÑO: 2013; IF: 3.687
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