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Cardoso LCA, Parra A, Gil CR, Arias P, Gallego N, Romanelli V, Kantaputra PN, Lima L, Llerena Junior JC, Arberas C, Guillen-Navarro E, Nevado J, Spanish OverGrowth Registry Initiative, Tenorio-Castano J, Lapunzina P. Clinical Spectrum and Tumour Risk Analysis in Patients with Beckwith-Wiedemann Syndrome Due to CDKN1C Pathogenic Variants. Cancers (Basel). 2022 Aug 5;14(15):3807. doi: 10.3390/cancers14153807. PubMed PMID: 35954470; PubMed Central PMCID: PMC9367242.
AÑO: 2022; IF: 5.2
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Leiva Gea A., Martos Lirio M.F., Barreda Bonis A.C., Marín del Barrio S., Heath K.E., Marín Reina P., Guillén Navarro E., Santos Simarro F., Riaño Galán I., Yeste Fernández D., Leiva-Gea I. Achondroplasia: Update on diagnosis, follow-up and treatment. Anales de Pediatria. December 2022. 97:423-423.e10. 10.1016/j.anpedi.2022.10.004
AÑO: 2022; IF: 2.1
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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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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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