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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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24053514
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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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Carcavilla A, Santomé JL, Pinto I, Sánchez-Pozo J, Guillén-Navarro E, Martín-Frías M, Lapunzina P, Ezquieta B. LEOPARD syndrome: a variant of Noonan syndrome strongly associated with hypertrophic cardiomyopathy. Rev Esp Cardiol (Engl Ed). 2013 May;66(5):350-6. doi: 10.1016/j.rec.2012.09.015. PubMed PMID: 24775816.
AÑO: 2013
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Sabater-Molina M, Guillén-Navarro E, García-Molina E, Ballesta-Martínez MJ, Escudero F, Ruiz-Espejo F. Barth syndrome in adulthood: a clinical case. Rev Esp Cardiol (Engl Ed). 2013 Jan;66(1):68-70. doi: 10.1016/j.recesp.2012.05.015. English, Spanish. PubMed PMID: 22999963.
AÑO: 2013; IF: 3.342
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