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Garcia-Martinez VE, Galiana-Valles X, Zomeno-Alcala O, Rodriguez-Lopez R, Llena C, Martinez-Romero MDC, Guillen-Navarro E. Dental Phenotype with Minor Ectodermal Symptoms Suggestive of WNT10A Deficiency. Children (Basel). 2023 Feb 10;10(2):356. doi: 10.3390/children10020356. PubMed PMID: 36832485; PubMed Central PMCID: PMC9955033.
AÑO: 2023; IF: 2.0
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36832485
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Lopez-Lopez D, Roldan G, Fernandez-Rueda JL, Bostelmann G, Carmona R, Aquino V, Perez-Florido J, Ortuno F, Pita G, Nunez-Torres R, Gonzalez-Neira A; CSVS Crowdsourcing Group; Pena-Chilet M, Dopazo J. A crowdsourcing database for the copy-number variation of the Spanish population. Hum Genomics. 2023 Mar 9;17(1):20. doi: 10.1186/s40246-023-00466-8. PubMed PMID: 36894999; PubMed Central PMCID: PMC9997023.
AÑO: 2023; IF: 3.8
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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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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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Leiva-Gea A, Martos Lirio MF, Barreda Bonis AC, Marin Del Barrio S, Heath KE, Marin Reina P, Guillen-Navarro E, Santos Simarro F, Riano Galan I, Yeste Fernandez D, Leiva-Gea I. Achondroplasia: Update on diagnosis, follow-up and treatment. An Pediatr (Engl Ed). 2022 Dec;97(6):423.e1-423.e11. doi: 10.1016/j.anpede.2022.10.004. Epub 2022 Nov 5. PubMed PMID: 36347803.
AÑO: 2022
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