A pilot study on the impact of congenital thrombophilia in COVID‐19 von Morena‐Barrio, Maria Eugenia, Bravo‐Pérez, Carlos, Morena‐Barrio, Belen, Orlando, Christelle, Cifuentes, Rosa, Padilla, Jose, Miñano, Antonia, Herrero, Sonia, Marcellini, Shally, Revilla, Nuria, Bernal, Enrique, Gómez‐Verdú, Jose Miguel, Jochmans, Kristin, Herranz, María Teresa, Vicente, Vicente, Corral, Javier, Lozano, María Luisa

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Congenital antithrombin deficiency in patients with splanchnic vein thrombosis von Baiges, Anna, Morena‐Barrio, María Eugenia, Turon, Fanny, Miñano, Antonia, Alberto Ferrusquía, Jose, Magaz, Marta, Reverter, Juan Carlos, Vicente, Vicente, Hernández‐Gea, Virginia, Corral, Javier, García‐Pagán, Juan Carlos

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Amelioration of the severity of heparin-binding antithrombin mutations by posttranslational mosaicism von Martínez-Martínez, Irene, Navarro-Fernández, José, Østergaard, Alice, Gutiérrez-Gallego, Ricardo, Padilla, José, Bohdan, Nataliya, Miñano, Antonia, Pascual, Cristina, Martínez, Constantino, de la Morena-Barrio, María Eugenia, Águila, Sonia, Pedersen, Shona, Kristensen, Søren Risom, Vicente, Vicente, Corral, Javier

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Molecular and clinical characterization of transient antithrombin deficiency: A new concept in congenital thrombophilia von Bravo‐Pérez, Carlos, Morena‐Barrio, María Eugenia, Morena‐Barrio, Belén, Miñano, Antonia, Padilla, José, Cifuentes, Rosa, Garrido, Pedro, Vicente, Vicente, Corral, Javier

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Expanding the genetic spectrum of TUBB1-related thrombocytopenia von Palma-Barqueros, Verónica, Bury, Loredana, Kunishima, Shinji, Lozano, María Luisa, Rodríguez-Alen, Augustín, Revilla, Nuria, Bohdan, Natalia, Padilla, José, Fernández-Pérez, María P., de la Morena-Barrio, María Eugenia, Marín-Quiles, Ana, Benito, Rocío, López-Fernández, María F., Marcellini, Shally, Zamora-Cánovas, Ana, Vicente, Vicente, Martínez, Constantino, Gresele, Paolo, Bastida, José M., Rivera, José

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Prognostic value of thrombin generation parameters in hospitalized COVID-19 patients von de la Morena-Barrio, María Eugenia, Bravo-Pérez, Carlos, Miñano, Antonia, de la Morena-Barrio, Belén, Fernandez-Perez, María Piedad, Bernal, Enrique, Gómez-Verdu, José Miguel, Herranz, María Teresa, Vicente, Vicente, Corral, Javier, Lozano, María Luisa

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ALG12‐CDG: An unusual patient without intellectual disability and facial dysmorphism, and with a novel variant von Morena‐Barrio, María Eugenia, Sabater, María, Morena‐Barrio, Belén, Ruhaak, Renee L., Miñano, Antonia, Padilla, José, Toderici, Mara, Roldán, Vanessa, Gimeno, Juan R., Vicente, Vicente, Corral, Javier

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Protective role of antithrombin in mouse models of liver injury von Guerrero, José A, Teruel, Raúl, Martínez, Constantino, Arcas, Isabel, Martínez-Martínez, Irene, de la Morena-Barrio, María Eugenia, Vicente, Vicente, Corral, Javier

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Antithrombin Dublin (p.Val30Glu): a relatively common variant with moderate thrombosis risk of causing transient antithrombin deficiency von Navarro-Fernández, José, Morena-Barrio, María Eugenia de la, Padilla, José, Miñano, Antonia, Bohdan, Nataliya, Águila, Sonia, Martínez-Martínez, Irene, Sevivas, Teresa S., de Cos, Carmen, Fernández-Mosteirín, Nuria, Llamas, Pilar, Asenjo, Susana, Medina, Pilar, Souto, Juan Carlos, Overvad, Kim, Kristensen, Søren R., Corra, Javier, Vicente, Vicente

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International clinical guidelines for the management of phosphomannomutase 2‐congenital disorders of glycosylation: Diagnosis, treatment and follow up von Altassan, Ruqaiah, Péanne, Romain, Jaeken, Jaak, Barone, Rita, Bidet, Muad, Borgel, Delphine, Brasil, Sandra, Cassiman, David, Cechova, Anna, Coman, David, Corral, Javier, Correia, Joana, de la Morena‐Barrio, María Eugenia, de Lonlay, Pascale, Dos Reis, Vanessa, Ferreira, Carlos R, Fiumara, Agata, Francisco, Rita, Freeze, Hudson, Funke, Simone, Gardeitchik, Thatjana, Gert, Matthijs, Girad, Muriel, Giros, Marisa, Grünewald, Stephanie, Hernández‐Caselles, Trinidad, Honzik, Tomas, Hutter, Marlen, Krasnewich, Donna, Lam, Christina, Lee, Joy, Lefeber, Dirk, Marques‐da‐Silva, Dorinda, Martinez, Antonio F, Moravej, Hossein, Õunap, Katrin, Pascoal, Carlota, Pascreau, Tiffany, Patterson, Marc, Quelhas, Dulce, Raymond, Kimiyo, Sarkhail, Peymaneh, Schiff, Manuel, Seroczyńska, Małgorzata, Serrano, Mercedes, Seta, Nathalie, Sykut‐Cegielska, Jolanta, Thiel, Christian, Tort, Federic, Vals, Mari‐Anne, Videira, Paula, Witters, Peter, Zeevaert, Renate, Morava, Eva

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MPI-CDG with transient hypoglycosylation and antithrombin deficiency von de la Morena-Barrio, María Eugenia, Wypasek, Ewa, Owczarek, Danuta, Miñano, Antonia, Vicente, Vicente, Corral, Javier, Undas, Anetta

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Regulatory regions of SERPINC1 gene: Identification of the first mutation associated with antithrombin deficiency von DE LA MORENA-BARRIO, Maria Eugenia, ANTON, Ana Isabel, CORRAL, Javier, MARTINEZ-MARTINEZ, Irene, PADILLA, Jose, MINANO, Antonia, NAVARRO-FERNANDEZ, Jose, AGUILA, Sonia, FERNANDA LOPEZ, Maria, FONTCUBERTA, Jordi, VICENTE, Vicente

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The FXII c.-4T>C Polymorphism as a Disease Modifier in Patients With Hereditary Angioedema Due to the FXII p.Thr328Lys Variant von Corvillo, Fernando, de la Morena-Barrio, María Eugenia, Marcos-Bravo, Carmen, López-Trascasa, Margarita, Vicente, Vicente, Emsley, Jonas, Caballero, Teresa, Corral, Javier, López-Lera, Alberto

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Lost in translation: bioinformatic analysis of variations affecting the translation initiation codon in the human genome von Abad-Navarro, Francisco, de la Morena-Barrio, María Eugenia, Fernández-Breis, Jesualdo Tomás, Corral, Javier

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Analysis of AlphaFold and molecular dynamics structure predictions of mutations in serpins von Garrido-Rodríguez, Pedro, Carmena-Bargueño, Miguel, de la Morena-Barrio, María Eugenia, Bravo-Pérez, Carlos, de la Morena-Barrio, Belén, Cifuentes-Riquelme, Rosa, Lozano, María Luisa, Pérez-Sánchez, Horacio, Corral, Javier

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Full-length antithrombin frameshift variant with aberrant C-terminus causes endoplasmic reticulum retention with a dominant-negative effect von Bravo-Pérez, Carlos, Toderici, Mara, Chambers, Joseph E, Martínez-Menárguez, José A, Garrido-Rodriguez, Pedro, Pérez-Sanchez, Horacio, de la Morena-Barrio, Belén, Padilla, José, Miñano, Antonia, Cifuentes-Riquelme, Rosa, Vicente, Vicente, Lozano, Maria L, Marciniak, Stefan J, de la Morena-Barrio, Maria Eugenia, Corral, Javier

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Two SERPINC1 variants affecting N-glycosylation of Asn224 cause severe thrombophilia not detected by functional assays von de la Morena-Barrio, Maria Eugenia, Suchon, Pierre, Jacobsen, Eva Marie, Iversen, Nina, Miñano, Antonia, de la Morena-Barrio, Belén, Bravo-Pérez, Carlos, Padilla, Jose, Cifuentes, Rosa, Asenjo, Susana, Deleuze, Jean François, Trégouët, David Alexandre, Lozano, Maria Luisa, Vicente, Vicente, Sandset, Per Morten, Morange, Pierre Emmanuel, Corral, Javier

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Archeogenetics of F11 p.Cys38Arg: a 5400-year-old mutation identified in different southwestern European countries von de la Morena-Barrio, María Eugenia, Salloum-Asfar, Salam, Esteban, Julio, de la Morena-Barrio, Belén, Altisent, Carmen, Martin-Fernández, Laura, Gueguen, Paul, Padilla, Jose, Miñano, Antonia, Parra, Rafael, Vicente, Vicente, Vidal, Francisco, Bauduer, Frederic, Carbonell, Pablo, Corral, Javier

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Dissecting the transcriptional program of phosphomannomutase 2-deficient cells: Lymphoblastoide B cell lines as a valuable model for congenital disorders of glycosylation studies von Parrado, Antonio, Rubio, Gonzalo, Serrano, Mercedes, De la Morena-Barrio, María Eugenia, Ibáñez-Micó, Salvador, Ruiz-Lafuente, Natalia, Schwartz-Albiez, Reinhard, Esteve-Solé, Ana, Alsina, Laia, Corral, Javier, Hernández-Caselles, Trinidad

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Landscape of antisense genes in the human genome and identification of new human hepatic antisense RNAs by long-read sequencing von Rojo-Carrillo, Juan Jose, Garrido-Rodríguez, Pedro, Llamas-López, Maria, Cifuentes-Riquelme, Rosa, Padilla, Jose, Ramos-Molina, Bruno, Lozano, Maria Luisa, de la Morena-Barrio, Belen, de la Morena-Barrio, Maria Eugenia, Corral, Javier

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