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Functional, biochemical, and clinical characterization of natural mutations affecting arginine residues in the heparin-binding site of antithrombin 功能性、生化及临床表征：影响抗凝血酶肝素结合位点精氨酸残基的自然突变 Cifuentes-Riquelme, Rosa; de la Morena-barrio, Maria Eugenia; Minano, Antonia; Garrido-Rodriguez, Pedro; Velasco, Francisco; Rojo-Carrillo, Juan Jose; Lopez-Correas, Paloma; Zaragoza-Huesca, David; Padilla, Jose; Lozano, Maria Luisa; Bravo-Perez, Carlos; Corral, Javier 分享 收藏
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Landscape of antisense genes in the human genome and identification of new human hepatic antisense RNAs by long-read sequencing Rojo-Carrillo, Juan Jose; Garrido-Rodriguez, Pedro; Llamas-Lopez, 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 分享 收藏
Thrombotic risk and features of patients with inferior vena cava agenesis: a multicentre, retrospective, observational study Bravo-Perez, Carlos; Blanco, Ana; Revilla, Nuria; Cobos, Jorge; Salgado-Parente, Alba; Asenjo, Susana; Mendez, Ramiro; Marti-Bonmati, Luis; Bonanad, Santiago; Albillos, Jose C.; Castro, Nerea; Marcellini, Shally; Sala, Paul Lopez; Lasa, Maialen; Bastida, Jose M.; Infante, Maria S.; Corral, Miguel A.; Pagan, Javier; Llamas, Pilar; Rodriguez-Sevilla, Juan J.; Rodriguez-Alen, Agustin; Sevivas, Teresa S.; Morello, Daniela; Villar, Cristina Garcia; Lojo, Sara; Marco, Ana; Simioni, Paolo; Vicente, Vicente; Lozano, Maria L.; Morena-Barrio, Maria E. de la; Garcia-Santos, Jose M.; Corral, Javier 分享 收藏
Targeted long-read sequencing identifies and characterizes structural variants in cases of inherited platelet disorders Zamora-Canovas, Ana; Morena-Barrio, Belen de la; Marin-Quilez, Ana; Sierra-Aisa, Cristina; Malea, Christoph; Fernandez-Mosteirin, Nuria; Trapero-Marugan, Maria; Padilla, Jose; Garrido-Rodriguez, Pedro; Sanchez-Fuentes, Ana; Rodriguez-Alen, Agustin; Gomez-Gonzalez, Pedro Luis; Revilla, Nuria; de la Morena-Barrio, Maria Eugenia; Bastida, Jose Maria; Corral, Javier; Rivera, Jose; Lozano, Maria L. 分享 收藏
Scalable production of tissue-like vascularized liver organoids from human PSCs Harrison, Sean P.; Siller, Richard; Tanaka, Yoshiaki; Chollet, Maria Eugenia; de la Morena-barrio, Maria Eugenia; Xiang, Yangfei; Patterson, Benjamin; Andersen, Elisabeth; Bravo-Perez, Carlos; Kempf, Henning; Asrud, Kathrine S.; Lunov, Oleg; Dejneka, Alexandr; Mowinckel, Marie-Christine; Stavik, Benedicte; Sandset, Per Morten; Melum, Espen; Baumgarten, Saphira; Bonanini, Flavio; Kurek, Dorota; Mathapati, Santosh; Almaas, Runar; Sharma, Kulbhushan; Wilson, Steven R.; Skottvoll, Froydis S.; Boger, Ida C.; Bogen, Inger Lise; Nyman, Tuula A.; Wu, Jun Jie; Bezrouk, Ales; Cizkova, Dana; Corral, Javier; Mokry, Jaroslav; Zweigerdt, Robert; Park, In-Hyun; Sullivan, Gareth J. 分享 收藏
Congenital factor XI deficiency and risk of heart failure in humans Lova, Alejandro; Pagan, Javier; de la Morena, Gonzalo; Vazquez, David Jose; Cerezo-Manchado, Juan Jose; Bravo-Perez, Carlos; Minano, Antonia; Tomas, Ana; Vicente, Vicente; Lozano, Marfa Luisa; Corral, Javier; de la Morena-Barrio, Marfa Eugenia 分享 收藏
Impact of genetic structural variants in factor XI deficiency: identification, accurate characterization, and inferred mechanism by long-read sequencing de la Morena-Barrio, Belen; Palomo, Angeles; Padilla, Jose; Martin-Fernandez, Laura; Rojo-Carrillo, Juan Jose; Cifuentes, Rosa; Bravo-Perez, Carlos; Garrido-Rodriguez, Pedro; Minand, Antonia; Rubio, Ana Maria; Pagan, Javier; Llamas, Maria; Vicente, Vicente; Vidal, Francisco; Lozano, Maria Luisa; Corral, Javier; Morena-Barrio, Maria Eugenia de la 分享 收藏
Antithrombin Deficiency Is Associated with Prothrombotic Plasma Fibrin Clot Phenotype Natorska, Joanna; Corral, Javier; de la Morena-Barrio, Maria Eugenia; Bravo-Perez, Carlos; Bagoly, Zsuzsa; Bereczky, Zsuzsanna; Trelinski, Jacek; Witkowski, Michal; Klajmon, Adrianna; Undas, Anetta; Zabczyk, Michal 分享 收藏
Functional, biochemical, molecular and clinical characterization of antithrombin c.1157T>C (p.Ile386Thr), a recurrent Polish variant with a founder effect Weronska, Anna; de la Morena-Barrio, Belen; Goldman-Mazur, Sarah; de la Morena-Barrio, Maria Eugenia; Padilla, Jose; Minano, Antonia; Garrido-Rodriguez, Pedro; Trelinski, Jacek; Potaczek, Daniel Piotr; Szczepanek, Anita; Undas, Anetta; Corral, Javier; Wypasek, Ewa 分享 收藏
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Full-length antithrombin frameshift variant with aberrant C-terminus causes endoplasmic reticulum retention with a dominant-negative effect Bravo-Perez, Carlos; Toderici, Mara; Chambers, Joseph E.; Martinez-Menarguez, Jose A.; Garrido-Rodriguez, Pedro; Perez-Sanchez, Horacio; De La Morena-Barrio, Belen; Padilla, Jose; Minano, Antonia; Cifuentes-Riquelme, Rosa; Vicente, Vicente; Lozano, Maria L.; Marciniak, Stefan J.; Eugenia de la Morena-Barrio, Maria; Corral, Javier 分享 收藏
Long-Read Sequencing Identifies the First Retrotransposon Insertion and Resolves Structural Variants Causing Antithrombin Deficiency De La Morena-Barrio, Belen; Stephens, Jonathan; Eugenia De La Morena-Barrio, Maria; Stefanucci, Luca; Padilla, Jose; Minano, Antonia; Gleadall, Nicholas; Luis Garcia, Juan; Fernanda Lopez-Fernandez, Maria; Morange, Pierre-Emmanuel; Puurunen, Marja; Undas, Anetta; Vidal, Francisco; Raymond, Frances Lucy; Vicente, Vicente; Ouwehand, Willem H.; Corral, Javier; Sanchis-Juan, Alba 分享 收藏
Molecular Dissection of Structural Variations Involved in Antithrombin Deficiency de la Morena-Barrio, Belen; Orlando, Christelle; Sanchis-Juan, Alba; Garcia, Juan L.; Padilla, Jose; Morena-Barrio, Maria E. de la; Puruunen, Marija; Stouffs, Katrien; Cifuentes, Rosa; Borras, Nina; Bravo-Perez, Carlos; Benito, Rocio; Cuenca-Guardiola, Javier; Vicente, Vicente; Vidal, Francisco; Hernandez-Rivas, Jesus M.; Ouwehand, Willem; Jochmans, Kristin; Corral, Javier 分享 收藏
Expanding the genetic spectrum of TUBB1-related thrombocytopenia Palma-Barqueros, Veronica; Bury, Loredana; Kunishima, Shinji; Luisa Lozano, Maria; Rodriguez-Alen, Augustin; Revilla, Nuria; Bohdan, Natalia; Padilla, Jose; Fernandez-Perez, Maria P.; Eugenia De la Morena-Barrio, Maria; Marin-Quiles, Ana; Benito, Rocio; Lopez-Fernandez, Maria F.; Marcellini, Shally; Zamora-Canovas, Ana; Vicente, Vicente; Martinez, Constantino; Gresele, Paolo; Bastida, Jose M.; Rivera, Jose 分享 收藏
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