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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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31147255
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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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Tenorio J, Alarcon P, Arias P, Dapia I, Garcia-Minaur S, Palomares Bralo M, Campistol J, Climent S, Valenzuela I, Ramos S, Monseny AM, Grondona FL, Botet J, Serrano M, Solis M, Santos-Simarro F, Alvarez S, Teixido-Tura G, Fernandez Jaen A, Gordo G, Bardon Rivera MB, Nevado J, Hernandez A, Cigudosa JC, Ruiz-Perez VL, Tizzano EF; SOGRI Consortium; Lapunzina P. Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients. Eur J Hum Genet. 2020 Apr;28(4):469-479. doi: 10.1038/s41431-019-0485-3. Epub 2019 Nov 4. PubMed PMID: 31685998; PubMed Central PMCID: PMC7080728.
AÑO: 2020; IF: 4.246
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Pascual-Alonso A, Blasco L, Vidal S, Gean E, Rubio P, O'Callaghan M, Martinez-Monseny AF, Castells AA, Xiol C, Catala V, Brandi N, Pacheco P, Ros C, Del Campo M, Guillen E, Ibanez S, Sanchez MJ, Lapunzina P, Nevado J, Santos F, Lloveras E, Ortigoza-Escobar JD, Tejada MI, Maortua H, Martinez F, Orellana C, Rosello M, Mesas MA, Obon M, Plaja A, Fernandez-Ramos JA, Tizzano E, Marin R, Pena-Segura JL, Alcantara S, Armstrong J. Molecular characterization of Spanish patients with MECP2 duplication syndrome. Clin Genet. 2020 Apr;97(4):610-620. doi: 10.1111/cge.13718. Epub 2020 Feb 23. PubMed PMID: 32043567.
AÑO: 2020; IF: 4.438
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Barreda-Sanchez M, Buendia-Martinez J, Glover-Lopez G, Carazo-Diaz C, Ballesta-Martinez MJ, Lopez-Gonzalez V, Sanchez-Soler MJ, Rodriguez-Pena L, Serrano-Anton AT, Gil-Ferrer R, Martinez-Romero MDC, Carbonell-Meseguer P, Guillen-Navarro E. High penetrance of acute intermittent porphyria in a Spanish founder mutation population and CYP2D6 genotype as a susceptibility factor. Orphanet J Rare Dis. 2019 Feb 26;14(1):59. doi: 10.1186/s13023-019-1031-7. PubMed PMID: 30808393; PubMed Central PMCID: PMC6390611.
AÑO: 2019; IF: 3.523
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