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Cruz R, Diz-de Almeida S, Lopez de Heredia M, Quintela I, Ceballos FC, Pita G, Lorenzo-Salazar JM, Gonzalez-Montelongo R, Gago-Dominguez M, Sevilla Porras M, Tenorio Castano JA, Nevado J, Aguado JM, Aguilar C, Aguilera-Albesa S, Almadana V, Almoguera B, Alvarez N, Andreu-Bernabeu A, Arana-Arri E, Arango C, Arranz MJ, Artiga MJ, Baptista-Rosas RC, Barreda-Sanchez M, Belhassen-Garcia M, Bezerra JF, Bezerra MAC, Boix-Palop L, Brion M, Brugada R, Bustos M, Calderon EJ, Carbonell C, Castano L, Castelao JE, Conde-Vicente R, Cordero-Lorenzana ML, Cortes-Sanchez JL, Corton M, Darnaude MT, De Martino-Rodriguez A, Del Campo-Perez V, Diaz de Bustamante A, Dominguez-Garrido E, Luchessi AD, Eiros R, Estigarribia Sanabria GM, Carmen Farinas M, Fernandez-Robelo U, Fernandez-Rodriguez A, Fernandez-Villa T, Gil-Fournier B, Gomez-Arrue J, Gonzalez Alvarez B, Gonzalez Bernaldo de Quiros F, Gonzalez-Penas J, Gutierrez-Bautista JF, Herrero MJ, Herrero-Gonzalez A, Jimenez-Sousa MA, Lattig MC, Liger Borja A, Lopez-Rodriguez R, Mancebo E, Martin-Lopez C, Martin V, Martinez-Nieto O, Martinez-Lopez I, Martinez-Resendez MF, Martinez-Perez A, Mazzeu JF, Merayo Macias E, Minguez P, Moreno Cuerda V, Silbiger VN, Oliveira SF, Ortega-Paino E, Parellada M, Paz-Artal E, Santos NPC, Perez-Matute P, Perez P, Perez-Tomas ME, Perucho T, Pinsach-Abuin ML, Pompa-Mera EN, Porras-Hurtado GL, Pujol A, Ramiro Leon S, Resino S, Fernandes MR, Rodriguez-Ruiz E, Rodriguez-Artalejo F, Rodriguez-Garcia JA, Ruiz Cabello F, Ruiz-Hornillos J, Ryan P, Soria JM, Souto JC, Tamayo E, Tamayo-Velasco A, Taracido-Fernandez JC, Teper A, Torres-Tobar L, Urioste M, Valencia-Ramos J, Yanez Z, Zarate R, Nakanishi T, Pigazzini S, Degenhardt F, Butler-Laporte G, Maya-Miles D, Bujanda L, Bouysran Y, Palom A, Ellinghaus D, Martinez-Bueno M, Rolker S, Amitrano S, Roade L, Fava F, Spinner CD, Prati D, Bernardo D, Garcia F, Darcis G, Fernandez-Cadenas I, Holter JC, Banales JM, Frithiof R, Duga S, Asselta R, Pereira AC, Romero-Gomez M, Nafria-Jimenez B, Hov JR, Migeotte I, Renieri A, Planas AM, Ludwig KU, Buti M, Rahmouni S, Alarcon-Riquelme ME, Schulte EC, Franke A, Karlsen TH, Valenti L, Zeberg H, Richards B, Ganna A, Boada M, de Rojas I, Ruiz A, Sanchez-Juan P, Real LM; SCOURGE Cohort Group; HOSTAGE Cohort Group; GRA@CE Cohort Group; Guillen-Navarro E, Ayuso C, Gonzalez-Neira A, Riancho JA, Rojas-Martinez A, Flores C, Lapunzina P, Carracedo A. Novel genes and sex differences in COVID-19 severity. Hum Mol Genet. 2022 Nov 10;31(22):3789-3806. doi: 10.1093/hmg/ddac132. PubMed PMID: 35708486; PubMed Central PMCID: PMC9652109.
AÑO: 2022; IF: 3.5
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35708486
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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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Cormier-Daire V, AlSayed M, Alves I, Bengoa J, Ben-Omran T, Boero S, Fredwall S, Garel C, Guillen-Navarro E, Irving M, Lampe C, Maghnie M, Mortier G, Sousa SB, Mohnike K. Optimising the diagnosis and referral of achondroplasia in Europe: European Achondroplasia Forum best practice recommendations. Orphanet J Rare Dis. 2022 Jul 27;17(1):293. doi: 10.1186/s13023-022-02442-2. PubMed PMID: 35897040; PubMed Central PMCID: PMC9327303.
AÑO: 2022
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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, 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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