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Martínez-Lage JF, Felipe-Murcia M, Navarro EG, Almagro MJ, López-Guerrero AL, Pérez-Espejo MA. Craniosynostosis in Kabuki syndrome. J Neurosurg Pediatr. 2010 Aug;6(2):198-201. doi: 10.3171/2010.5.PEDS09286. PubMed PMID: 20672944.
AÑO: 2010; IF: 2.17
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20672944
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Vera-Carbonell A, López-Expósito I, Bafalliu JA, Ballesta-Martínez M, Glóver G, Llópis C, Moya-Quiles R, Suela J, Fernández A, Guillén-Navarro E. Molecular characterization of a new patient with a non-recurrent inv dup del 2q and review of the mechanisms for this rearrangement. Am J Med Genet A. 2010 Oct;152A(10):2670-80. doi: 10.1002/ajmg.a.33613. Review. PubMed PMID: 20799321.
AÑO: 2010; IF: 2.505
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Martínez-Lage JF, Guillén-Navarro E, Almagro MJ, Felipe-Murcia M, López López-Guerrero A, Galarza M. Hydrocephalus and Chiari type 1 malformation in macrocephaly-cutis marmorata telangiectatica congenita: a case-based update. Childs Nerv Syst. 2010 Jan;26(1):13-8. doi: 10.1007/s00381-009-0972-x. Epub 2009 Sep 10. PubMed PMID: 19763591.
AÑO: 2010; IF: 1.314
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Moya-Quiles MR, Ballesta-Martínez MJ, López-González V, Glover G, Guillén-Navarro E. A compound heterozygous mutation in the EDAR gene in a Spanish family with autosomal recessive hypohidrotic ectodermal dysplasia. Arch Dermatol Res. 2010 May;302(4):307-10. doi: 10.1007/s00403-009-1013-z. Epub 2009 Dec 24. PubMed PMID: 20033817.
AÑO: 2010; IF: 2.011
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Vera-Carbonell A, Bafalliu JA, Guillén-Navarro E, Escalona A, Ballesta-Martínez MJ, Fuster C, Fernández A, López-Expósito I. Characterization of a de novo complex chromosomal rearrangement in a patient with cri-du-chat and trisomy 5p syndromes. Am J Med Genet A. 2009 Nov;149A(11):2513-21. doi: 10.1002/ajmg.a.33055. PubMed PMID: 19842199.
AÑO: 2009; IF: 2.404
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