20610. PSEUDO-MERALGIA PARESTÉSICA COMO FORMA DE PRESENTACIÓN DE SANGRADO ASOCIADO A CAVERNOMA MEDULAR DORSAL von Fernández Rodríguez, R., Montalvo Valdivieso, A., Iglesias Alonso, L., Puente Muñoz, A., de la Morena Vicente, A., Nakta Castro- Villacañas, A., Sánchez Aparicio, A., Martínez Galdámez, M., Pérez Martínez, D.

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Neurotransmitters in Alzheimer's disease von Manzano-Palomo, S, De la Morena-Vicente, M A, Barquero, M S

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Neurotransmisores en la enfermedad de Alzheimer von Manzano Palomo, Sagrario, De la Morena Vicente, Mª Asuncion, Barquero Jiménez, María Sagrario

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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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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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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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High penetrance of inferior vena cava system atresia in severe thrombophilia caused by homozygous antithrombin Budapest 3 variant: Description of a new syndrome von Morena‐Barrio, María E., Gindele, Réka, Bravo‐Pérez, Carlos, Ilonczai, Péter, Zuazu, Isabel, Speker, Marianna, Oláh, Zsolt, Rodríguez‐Sevilla, Juan J., Entrena, Laura, Infante, Maria S., Morena‐Barrio, Belén, García, José M., Schlammadinger, Ágota, Cifuentes‐Riquelme, Rosa, Mora‐Casado, Asunción, Miñano, Antonia, Padilla, Jose, Vicente, Vicente, Corral, Javier, Bereczky, Zsuzsanna

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The whole is greater than the sum of its parts: Long‐read sequencing for solving clinical problems in haematology von Bravo‐Perez, Carlos, Cifuentes‐Riquelme, Rosa, Padilla, Jose, de la Morena‐Barrio, Maria E., Ortuño, Francisco J., Garrido‐Rodríguez, Pedro, Amigo, Maria L., Heras, Inmaculada, Vicente, Vicente, Lozano, Maria L., Teruel‐Montoya, Raul, de la Morena‐Barrio, Belen, Corral, Javier

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Genotype–phenotype gradient of SERPINC1 variants in a single family reveals a severe compound antithrombin deficiency in a dead embryo von Bravo‐Pérez, C., Morena‐Barrio, M. E., Palomo, A., Entrena, L., Morena‐Barrio, B., Padilla, J., Miñano, A., Navarro, E., Cifuentes, R., Corral, J., Vicente, V.

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Incidence and features of thrombosis in children with inherited antithrombin deficiency von de la Morena-Barrio, Belén, Orlando, Christelle, de la Morena-Barrio, María Eugenia, Vicente, Vicente, Jochmans, Kristin, Corral, Javier

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Identification of the first large intronic deletion responsible of type I antithrombin deficiency not detected by routine molecular diagnostic methods von De la Morena‐Barrio, Belén, Borràs, Nina, Rodríguez‐Alén, Agustín, Morena‐Barrio, María E., García‐Hernández, Juan L., Padilla, José, Bravo‐Pérez, Carlos, Miñano, Antonia, Rollón, Noelia, Corral, Javier, Vidal, Francisco, Vicente, Vicente

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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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Elevated thrombin generation in patients with congenital disorder of glycosylation and combined coagulation factor deficiencies von Pascreau, Tiffany, Morena‐Barrio, Maria E., Lasne, Dominique, Serrano, Mercedes, Bianchini, Elsa, Kossorotoff, Manoelle, Boddaert, Nathalie, Bruneel, Arnaud, Seta, Nathalie, Vicente, Vicente, Lonlay, Pascale, Corral, Javier, Borgel, Delphine

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The genetics of antithrombin von Corral, Javier, de la Morena-Barrio, María Eugenia, Vicente, Vicente

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Usefulness and Limitations of Multiple Ligation-Dependent Probe Amplification in Antithrombin Deficiency von Cifuentes, Rosa, Padilla, José, de la Morena-Barrio, María Eugenia, de la Morena-Barrio, Belén, Bravo-Pérez, Carlos, Garrido-Rodríguez, Pedro, Llamas, María, Miñano, Antonia, Vicente, Vicente, Lozano, María Luisa, 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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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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Molecular Dissection of Structural Variations Involved in Antithrombin Deficiency von de la Morena-Barrio, Belén, Orlando, Christelle, Sanchis-Juan, Alba, García, Juan L., Padilla, José, de la Morena-Barrio, María E., Puruunen, Marija, Stouffs, Katrien, Cifuentes, Rosa, Borràs, Nina, Bravo-Pérez, Carlos, Benito, Rocio, Cuenca-Guardiola, Javier, Vicente, Vicente, Vidal, Francisco, Hernández-Rivas, Jesús M., Ouwehand, Willem, Jochmans, Kristin, Corral, Javier

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Hypoglycosylation is a common finding in antithrombin deficiency in the absence of a SERPINC1 gene defect von Morena‐Barrio, M. E., Martínez‐Martínez, I., Cos, C., Wypasek, E., Roldán, V., Undas, A., Scherpenzeel, M., Lefeber, D. J., Toderici, M., Sevivas, T., España, F., Jaeken, J., Corral, J., Vicente, V.

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Impact of genetic structural variants in factor XI deficiency: identification, accurate characterization, and inferred mechanism by long-read sequencing von de la Morena-Barrio, Belén, Palomo, Ángeles, Padilla, José, Martín-Fernández, Laura, Rojo-Carrillo, Juan José, Cifuentes, Rosa, Bravo-Pérez, Carlos, Garrido-Rodríguez, Pedro, Miñano, Antonia, Rubio, Ana María, Pagán, Javier, Llamas, María, Vicente, Vicente, Vidal, Francisco, Lozano, María Luisa, Corral, Javier, de la Morena-Barrio, María Eugenia

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