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Martinez Jimenez V, Ortuno Lopez PP, Roca Merono S, Rodriguez Pena L, Galan Carrillo I, Galbis Martinez L, Ramos Carrasco F, Pinero Hernandez JA, Gonzalez Rodriguez JD, Guillen Navarro E; Unidad Multidisciplinar de Enfermedades Renales Hereditarias de la Region de Murcia (UMERH-RM). Oral-facio-digital syndrome type I: In the differential diagnosis of autosomic dominant polycystic kidney disease, about three cases. Nefrologia (Engl Ed). 2023 Mar-Apr;43(2):261-263. doi: 10.1016/j.nefroe.2023.06.002. Epub 2023 Jun 14. No abstract available. PubMed PMID: 37328341.
AÑO: 2023
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37328341
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Amate-Garcia G, Ballesta-Martinez MJ, Serrano-Lorenzo P, Garrido-Moraga R, Gonzalez-Quintana A, Blazquez A, Rubio JC, Garcia-Consuegra I, Arenas J, Ugalde C, Moran M, Guillen-Navarro E, Martin MA. A Novel Mutation Associated with Neonatal Lethal Cardiomyopathy Leads to an Alternative Transcript Expression in the X-Linked Complex I NDUFB11 Gene. Int J Mol Sci. 2023 Jan 16;24(2):1743. doi: 10.3390/ijms24021743. PubMed PMID: 36675256; PubMed Central PMCID: PMC9865986.
AÑO: 2023; IF: 4.9
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Blasco-Perez L, Costa-Roger M, Leno-Colorado J, Bernal S, Alias L, Codina-Sola M, Martinez-Cruz D, Castiglioni C, Bertini E, Travaglini L, Millan JM, Aller E, Sotoca J, Juntas R, Hoei-Hansen CE, Moreno-Escribano A, Guillen-Navarro E, Costa-Comellas L, Munell F, Boronat S, Rojas-Garcia R, Povedano M, Cusco I, Tizzano EF. Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G>C Variant in SMN2. Int J Mol Sci. 2022 Jul 27;23(15):8289. doi: 10.3390/ijms23158289. PubMed PMID: 35955418; PubMed Central PMCID: PMC9368089.
AÑO: 2022; IF: 5.6
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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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