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Sánchez-Soler MJ, Barreda-Sánchez M, Ballesta-Martínez MJ, Glóver G, Guillén-Navarro E. [Acute intermittent porphyria in a paediatric population in the region of Murcia: Phenotype and prevalence]. An Pediatr (Barc). 2016 Feb;84(2):114-5. doi: 10.1016/j.anpedi.2015.09.002. Epub 2015 Oct 20. Spanish. PubMed PMID: 26497633.
AÑO: 2016; IF: 1.14
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26497633
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Barraza-García J, Iván Rivera-Pedroza C, Salamanca L, Belinchón A, López-González V, Sentchordi-Montané L, del Pozo Á, Santos-Simarro F, Campos-Barros Á, Lapunzina P, Guillén-Navarro E, González-Casado I, García-Miñaur S, Heath KE. Two novel POC1A mutations in the primordial dwarfism, SOFT syndrome: Clinical homogeneity but also unreported malformations. Am J Med Genet A. 2016 Jan;170A(1):210-6. doi: 10.1002/ajmg.a.37393. Epub 2015 Sep 16. PubMed PMID: 26374189.
AÑO: 2016; IF: 2.259
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Barroso E, Berges-Soria J, Benito-Sanz S, Rivera-Pedroza CI, Ballesta-Martínez MJ, López-González V, Guillen-Navarro E, Heath KE. Identification of the fourth duplication of upstream IHH regulatory elements, in a family with craniosynostosis Philadelphia type, helps to define the phenotypic characterization of these regulatory elements. Am J Med Genet A. 2015 Apr;167A(4):902-6. doi: 10.1002/ajmg.a.36811. PubMed PMID: 25692887.
AÑO: 2015; IF: 2.082
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Araujo-Vilar D, Sánchez-Iglesias S, Guillín-Amarelle C, Castro A, Lage M, Pazos M, Rial JM, Blasco J, Guillén-Navarro E, Domingo-Jiménez R, del Campo MR, González-Méndez B, Casanueva FF. Recombinant human leptin treatment in genetic lipodystrophic syndromes: the long-term Spanish experience. Endocrine. 2015 May;49(1):139-47. doi: 10.1007/s12020-014-0450-4. PubMed PMID: 25367549; PubMed Central PMCID: PMC4412649.
AÑO: 2015; IF: 3.279
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Paumard-Hernández B, Berges-Soria J, Barroso E, Rivera-Pedroza CI, Pérez-Carrizosa V, Benito-Sanz S, López-Messa E, Santos F, García-Recuero II, Romance A, Ballesta-Martínez JM, López-González V, Campos-Barros Á, Cruz J, Guillén-Navarro E, Sánchez Del Pozo J, Lapunzina P, García-Miñaur S, Heath KE. Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants. Eur J Hum Genet. 2015 Jul;23(7):907-14. doi: 10.1038/ejhg.2014.205. PubMed PMID: 25271085; PubMed Central PMCID: PMC4463497.
AÑO: 2015; IF: 4.58
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