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Riera-Monroig J, Martinez-Romero MDC, Alos L, Guillen-Navarro E, Mascaro JM Jr. Eccrine syringofibroadenoma as a clue for the diagnosis of Schopf-Schulz-Passarge syndrome in acquired palmoplantar keratoderma. J Cutan Pathol. 2020 Oct;47(10):987-989. doi: 10.1111/cup.13743. Epub 2020 Jun 1. No abstract available. PubMed PMID: 32406069.
AÑO: 2020; IF: 1.587
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32406069
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Esperon-Moldes U, Ginarte-Val M, Rodriguez-Pazos L, Fachal L, Martin-Santiago A, Vicente A, Jimenez-Gallo D, Guillen-Navarro E, Sampol LM, Gonzalez-Ensenat MA, Vega A. Novel CYP4F22 mutations associated with autosomal recessive congenital ichthyosis (ARCI). Study of the CYP4F22 c.1303C>T founder mutation. PLoS One. 2020 Feb 18;15(2):e0229025. doi: 10.1371/journal.pone.0229025. eCollection 2020. PubMed PMID: 32069299; PubMed Central PMCID: PMC7028276.
AÑO: 2020; IF: 3.24
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Palencia-Campos A, Martinez-Fernandez ML, Altunoglu U, Soto-Bielicka P, Torres A, Marin P, Aller E, Senturk L, Berkoz O, Yildiran M, Kayserili H, Gil-Camarero E, Colli-Lista G, Sanchis-Calvo A, Carretero A; ECEMC Working Group on Polydactyly; Guillen-Navarro E, Lopez-Gonzalez V, Ballesta-Martinez M, Rosell J, Aglan MS, Temtamy S, Otaify GA, Cuevas-Catalina L, Torres-Saavedra MN, Nevado J, Tenorio J, Lapunzina P, Bermejo-Sanchez E, Ruiz-Perez VL. Heterozygous pathogenic variants in GLI1 are a common finding in isolated postaxial polydactyly A/B. Hum Mutat. 2020 Jan;41(1):265-276. doi: 10.1002/humu.23921. Epub 2019 Nov 6. PubMed PMID: 31549748.
AÑO: 2020; IF: 4.878
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Sanchez-Soler MJ, Serrano-Anton AT, Lopez-Gonzalez V, Ballesta Martinez MJ, Guillen-Navarro E. [First Spanish case of syndromic intellectual disability with dysmorphic facies, seizures, and distal limb anomalies caused by balletic mutations in the OTUD6B gene]. An Pediatr (Engl Ed). 2020 Mar;92(3):169-171. doi: 10.1016/j.anpedi.2019.03.010. Epub 2019 May 27. No abstract available. Spanish. PubMed PMID: 31147255.
AÑO: 2020; IF: 1.5
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Sanchez-Soler MJ, Lopez-Gonzalez V, Ballesta-Martinez MJ, Galvez-Pradillo J, Domingo-Martinez R, Perez-Fernandez V, Guillen-Navarro E. [Assessment of psychomotor development of Spanish children up to 3 years of age conceived by assisted reproductive techniques: Prospective matched cohort study]. An Pediatr (Engl Ed). 2020 Apr;92(4):200-207. doi: 10.1016/j.anpedi.2019.07.006. Epub 2019 Sep 2. Spanish. PubMed PMID: 31488383.
AÑO: 2020; IF: 1.5
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