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Nevado J, Garcia-Minaur S, Palomares-Bralo M, Vallespin E, Guillen-Navarro E, Rosell J, Bel-Fenellos C, Mori MA, Mila M, Del Campo M, Barruz P, Santos-Simarro F, Obregon G, Orellana C, Pachajoa H, Tenorio JA, Galan E, Cigudosa JC, Moresco A, Saleme C, Castillo S, Gabau E, Perez-Jurado L, Barcia A, Martin MS, Mansilla E, Vallcorba I, Garcia-Murillo P, Cammarata-Scalisi F, Goncalves Pereira N, Blanco-Lago R, Serrano M, Ortigoza-Escobar JD, Gener B, Seidel VA, Tirado P, Lapunzina P; Spanish PMS Working Group. Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals. Front Genet. 2022 Apr 12;13:652454. doi: 10.3389/fgene.2022.652454. eCollection 2022. PubMed PMID: 35495150; PubMed Central PMCID: PMC9044489.
AÑO: 2022; IF: 3.7
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35495150
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Sanchez-Soler MJ, Serrano-Anton AT, Lopez-Gonzalez V, Ballesta-Martinez MJ, Guillen-Navarro E. Extremely variable expressivity in Smith-Lemli-Opitz syndrome: Review of 4 cases. An Pediatr (Engl Ed). 2022 Mar;96(3):253-255. doi: 10.1016/j.anpede.2021.03.005. Epub 2022 Mar 16. No abstract available. PubMed PMID: 35305950.
AÑO: 2022
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Sanchez Soler MJ, Lopez-Gonzalez V, Ballesta-Martinez MJ, Galvez-Pradillo J, Nicolas-Arnao M, Gomez-Sanchez E, Perez-Fernandez V, Guillen Navarro E. Risk of mayor and minor birth defects in children conceived by assisted reproductive technology (IVF/ICSI): A prospective controlled cohort study. An Pediatr (Engl Ed). 2021 Dec;95(6):448-458. doi: 10.1016/j.anpede.2021.06.009. Epub 2021 Nov 29. PubMed PMID: 34857501.
AÑO: 2021
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Quijada-Fraile P, Arranz Canales E, Martin-Hernandez E, Ballesta-Martinez MJ, Guillen-Navarro E, Pintos-Morell G, Molto-Abad M, Moreno-Martinez D, Garcia Morillo S, Blasco-Alonso J, Couce ML, Gil Sanchez R, Cortes-Saladelafont E, Lopez Rodriguez MA, Garcia-Silva MT, Morales Conejo M. Clinical features and health-related quality of life in adult patients with mucopolysaccharidosis IVA: the Spanish experience. Orphanet J Rare Dis. 2021 Nov 3;16(1):464. doi: 10.1186/s13023-021-02074-y. PubMed PMID: 34732228; PubMed Central PMCID: PMC8565075.
AÑO: 2021
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