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Prenatal FBXL4-Associated Mitochondrial DNA Depletion Syndrome-13: A New Case and Review of the Literature 孕期FBXL4相关线粒体DNA耗竭综合征13型:一例新病例及文献综述 Ros, Andrea; Hurtado, Ivan; Vazquez-Mendez, Elida; Monlleo-Neila, Laura; Pauta, Montserrat; Rovira-Remisa, M. Mar; Garcia, Belen; Masotto, Barbara; Comas, Carmina; Blanco, Ignacio; Zientalska, Aneta 分享 收藏
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Pregnancy-related issues in rare and low-prevalence diseases: results of ERN transversal working group on pregnancy and family planning survey Zucchi, Dina; Marinello, Diana; Tani, Chiara; Fulvio, Giovanni; Aguilera, Silvia; Benachi, Alexandra; Biller, Ruth; Blanco, Ignacio; Borgards, Petra; Boiteux, Marie-Claude; Brandi, Maria Luisa; Costafreda, Ester; Fonseca, Joao E.; Fredi, Micaela; Iotova, Violeta; Louisse, Simone; Nalli, Cecilia; Onali, Michela; Power, Beverley; Rousset-Jablonski, Christine; Sturz, Dominique; Tincani, Angela; Vieira, Ana; Capela, Susana; Dan, Dorica; De Backer, Julie; de Die-Smulders, Christine; Dufke, Andreas; Artzner, Estelle Lecointe; Limongelli, Giuseppe; Lorenz, Birgit; Papenthin, Wiebke; Pascau, Maria Jesus; Raidt, Johanna; Ray-Coquard, Isabelle; Rimmer, Rachel; Roehl, Claas; Schneider, Holm; Yap, Tet; Talarico, Rosaria; Mosca, Marta 分享 收藏
Prognostic performance of early immune and endothelial activation markers in mild-to-moderate COVID-19 outpatients: a nested case-control study Alemany, Andrea; Balanza, Nuria; Millat-Martinez, Pere; Ouchi, Dan; Corbacho-Monne, Marc; Morales-Indiano, Cristian; Fernandez Rivas, Gema; Blanco, Ignacio; Mitja, Oriol; Aguilar, Ruth; Dobano, Carlota; Bassat, Quique; Moncunill, Gemma; Baro, Barbara 分享 收藏
Prospective individual patient data meta-analysis of two randomized trials on convalescent plasma for COVID-19 outpatients (vol 13, 2583, 2022) 新型冠状病毒肺炎门诊患者恢复期血浆的两项随机试验的前瞻性个体患者数据荟萃分析 (第13卷,2583,2022) Millat-Martinez, Pere; Gharbharan, Arvind; Alemany, Andrea; Rokx, Casper; Geurtsvankessel, Corine; Papageorgiou, Grigorios; van Geloven, Nan; Jordans, Carlijn; Groeneveld, Geert; Swaneveld, Francis; van der Schoot, Ellen; Corbacho-Monne, Marc; Ouchi, Dan; Ferreira, Francini Piccolo; Malchair, Pierre; Videla, Sebastian; Garcia, Vanesa Garcia; Ruiz-Comellas, Anna; Ramirez-Morros, Anna; Rodriguez Codina, Joana; Amado Simon, Rosa; Grifols, Joan-Ramon; Blanco, Julian; Blanco, Ignacio; Ara, Jordi; Bassat, Quique; Clotet, Bonaventura; Baro, Barbara; Troxel, Andrea; Zwaginga, Jaap Jan; Mitja, Oriol; Rijnders, Bart J. A. 分享 收藏
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Unbalancing cAMP and Ras/MAPK pathways as a therapeutic strategy for cutaneous neurofibromas Mazuelas, Helena; Magallon-Lorenz, Miriam; Uriarte-Arrazola, Itziar; Negro, Alejandro; Rosas, Inma; Blanco, Ignacio; Castellanos, Elisabeth; Lazaro, Conxi; Gel, Bernat; Carrio, Meritxell; Serra, Eduard 分享 收藏
Initial Management of Intra-abdominal Abscesses and Preventive Strategies for Abscess Recurrence in Penetrating Crohn's Disease: A National, Multicentre Study Based on ENEIDA Registry Casas Deza, Diego; Polo Cuadro, Cristina; de Francisco, Ruth; Vela Gonzalez, Milagros; Bermejo, Fernando; Blanco, Ignacio; de la Serna, Alvaro; Bujanda, Luis; Bernal, Lorena; Rueda Garcia, Jose Luis; Gargallo-Puyuelo, Carla J.; Fuentes-Valenzuela, Esteban; Castro, Beatriz; Guardiola, Jordi; Ladron, Gemma; Suria, Carles; Saez Fuster, Julia; Gisbert, Javier P.; Sicilia, Beatriz; Gomez, Raquel; Munoz Vilafranca, Carmen; Barreiro-De Acosta, Manuel; Pena, Elena; Castillo Pradillo, Marta; Cerrillo, Elena; Calvet, Xavier; Mancenido, Noemi; Monfort i Miquel, David; Marin, Sandra; Roig, Cristina; Marce, Ainhoa; Ramirez de Piscina, Patricia; Betore, Elena; Martin-Cardona, Albert; Teller, Marta; Alonso Abreu, Inmaculada; Maroto, Nuria; Frago, Santiago; Gardeazabal, Diego; Perez-Martinez, Isabel; Febles Gonzalez, Angel David; Barrero, Sara; Taxonera, Carlos; Garcia de la Filia, Irene; Ezkurra-Altuna, Ander; Madero, Lucia; Dolores Martin-Arranz, Maria; Gomollon, Fernando; Domenech, Eugeni; Garcia-Lopez, Santiago 分享 收藏
Viral dynamics in patients with monkeypox infection: a prospective cohort study in Spain Suner, Clara; Ubals, Maria; Tarin-Vicente, Eloy Jose; Mendoza, Adria; Alemany, Andrea; Hernandez-Rodriguez, Agueda; Casan, Cristina; Descalzo, Vicente; Ouchi, Dan; Marc, Aurelien; Rivero, Angel; Coll, Pep; Oller, Xenia; Cabrera, Jose Miguel; Vall-Mayans, Marti; Folgueira, Marfa Dolores; Melendez, Marfa angeles; Agud-Dios, Manuel; Gil-Cruz, Elena; de Leon, Alexia Paris; Marinero, Afda Ramfrez; Buhiichyk, Vira; Galvan-Casas, Cristina; Paredes, Roger; Prat, Nuria; Farre, Maria-Rosa Sala; Bonet-Simo, Josep Maria; Farre, Magf; Ortiz-Romero, Pablo L.; Clotet, Bonaventura; Garcia-Patos, Vicente; Casabona, Jordi; Guedj, Jeremie; Cardona, Pere-Joan; Blanco, Ignacio; Marks, Michael; Mitja, Oriol 分享 收藏
ERN GENTURIS tumour surveillance guidelines for individuals with neurofibromatosis type 1 Carton, Charlotte; Evans, D. Gareth; Blanco, Ignacio; Friedrich, Reinhard E.; Ferner, Rosalie E.; Farschtschi, Said; Salvador, Hector; Azizi, Amedeo A.; Mautner, Victor; Roehl, Claas; Peltonen, Sirkku; Stivaros, Stavros; Legius, Eric; Oostenbrink, Rianne 分享 收藏
Epidemiological and Genomic Analysis of a Large SARS-CoV-2 Outbreak in a Long-Term Care Facility in Catalonia, Spain Bordoy, Antoni E.; Valles, Xavier; Not, Anna; Chiner-Oms, Alvaro; Saludes, Veronica; Torres Cervos, Judit; Roset Roig, Anna; Juan-Andres, Concha; Sureda, Helena; Pardo-Amil, Vanessa; Garcia, Irene; Guitart Rossell, Gemma; Cambra Cibeira, Laura; Casan, Cristina; Gimenez, Montserrat; Blanco, Ignacio; Torres-Puente, Manuela; Cancino-Munoz, Irving; Gonzalez-Candelas, Fernando; Comas, Inaki; Martro, Elisa 分享 收藏
Monitoring SARS-CoV-2 variant transitions using differences in diagnostic cycle threshold values of target genes Bordoy, Antoni E.; Saludes, Veronica; Panisello Yague, David; Clara, Gemma; Soler, Laia; Paris de Leon, Alexia; Casan, Cristina; Blanco-Suarez, Ana; Guerrero-Murillo, Mercedes; Rodriguez-Ponga, Beatriz; Noguera-Julian, Marc; Catala-Moll, Francesc; Pey, Irina; Pilar Armengol, Maria; Casadella, Maria; Parera, Mariona; Pluvinet, Raquel; Sumoy, Lauro; Clotet, Bonaventura; Gimenez, Montserrat; Martro, Elisa; Cardona, Pere-Joan; Blanco, Ignacio 分享 收藏
Antisense oligonucleotides targeting exon 11 are able to partially rescue the NF2-related schwannomatosis phenotype in vitro Catasus, Nuria; Rosas, Inma; Bonache, Sandra; Negro, Alex; Torres-Martin, Miguel; Plana-Pla, Adria; Salvador, Hector; Serra, Eduard; Blanco, Ignacio; Castellanos, Elisabeth 分享 收藏
Evaluating the Accuracy of Self-Collected Swabs for the Diagnosis of Monkeypox Ubals, Maria; Jose Tarin-Vicente, Eloy; Oller, Xenia; Mendoza, Adria; Alemany, Andrea; Hernandez-Rodriguez, Agueda; Casan, Cristina; Rivero, Angel; Coll, Pep; Miguel Cabrera, Jose; Vall, Marti; Agud-Dios, Manuel; Gil-Cruz, Elena; Paris de Leon, Alexia; Ramirez, Aida; Dolores Folgueira, Maria; Angeles Melendez, Maria; Buhiichyk, Vira; Galvan-Casas, Cristina; Paredes, Roger; Prat, Nuria; Sala Farre, Maria-Rosa; Maria Bonet-Simo, Josep; Ortiz-Romero, Pablo L.; Clotet, Bonaventura; Cardona, Pere-Joan; Blanco, Ignacio; Marks, Michael; Suner, Clara; Mitja, Oriol; Group, Movie 分享 收藏
Transmissibility, hospitalization, and intensive care admissions due to omicron compared to delta variants of SARS-CoV-2 in Catalonia: A cohort study and ecological analysis (vol 10, 961030, 2022) Catala, Marti; Coma, Ermengol; Alonso, Sergio; Andres, Cristina; Blanco, Ignacio; Anton, Andres; Bordoy, Antoni E. E.; Cardona, Pere-Joan; Fina, Francesc; Martro, Elisa; Medina, Manuel; Mora, Nuria; Saludes, Veronica; Prats, Clara; Prieto-Alhambra, Daniel; Alvarez-Lacalle, Enrique 分享 收藏