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Co-inheritance of ITGA2B and TUBB1 variants in a family reveals distinct genetic contributions to platelet dysfunction ITGA2B和TUBB1变异体的共遗传在一个家族中揭示了导致血小板功能障碍的不同遗传贡献 Bandini, Perla; Borras, Nina; Martin-Fernandez, Laura; Fernandez-Mosteirin, Nuria; Aguinaco, Maria Reyes; Benitez, Olga; Comes, Natalia; Ramirez, Lorena; Gonzalez, Noemi; Lera, Carina; Altisent, Carme; Vidal, Francisco; Corrales, Irene 分享 收藏
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Gaining Insights into Inherited Bleeding Disorders of Complex Etiology in Pediatric Patients: Whole-Exome Sequencing as First-Line Investigation Tool Bandini, Perla; Borras, Nina; Berrueco, Ruben; Gassiot, Susanna; Martin-Fernandez, Laura; Sarrate, Edurne; Comes, Natalia; Ramirez, Lorena; Hobeich, Carlos; Vidal, Francisco; Corrales, Irene 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
Multiallelic Copy Number Variation in ORM1 is Associated with Plasma Cell-Free DNA Levels as an Intermediate Phenotype for Venous Thromboembolism Martin-Fernandez, Laura; Garcia-Martinez, Iris; Lopez, Sonia; Martinez-Perez, Angel; Vilalta, Noelia; Plaza, Melania; Moret, Carla; Vinuela, Ana; Brown, Andrew A.; Panousis, Nikolaos I.; Buil, Alfonso; Dermitzakis, Emmanouil T.; Corrales, Irene; Carlos Souto, Juan; Vidal, Francisco; Manuel Soria, Jose 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
A validated clinical-genetic score for assessing the risk of thrombosis in patients with COVID-19 receiving thromboprophylaxis Manuel Soria, Jose; Mojal, Sergi; Martinez-Perez, Angel; Rene Acosta, Francisco; Lopez, Sonia; Miqueleiz, Sara; Rodriguez, Diana; Angeles Quijada, Maria; Cardenas, Antonio; Vidal, Francisco; Remacha, Angel; Maria Antonijoan, Rosa; Carlos Souto, Juan 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
Prevalence and factors associated with SARS-CoV-2 seropositivity in the Spanish HIV Research Network Cohort Berenguer, Juan; Diez, Cristina; Martin-Vicente, Maria; Mican, Rafael; Perez-Elias, Maria J.; Garcia-Fraile, Lucio J.; Vidal, Francisco; Suarez-Garcia, Ines; Podzamczer, Daniel; Del Romero, Jorge; Pulido, Federico; Iribarren, Jose A. .; Gutierrez, Felix; Poveda, Eva; Galera, Carlos; Izquierdo, Rebeca; Asensi, Victor; Portilla, Joaquin; Lopez, Juan C.; Arribas, Jose R.; Moreno, Santiago; Gonzalez-Garcia, Juan; Resino, Salvador; Jarrin, Inmaculada 分享 收藏
Molecular study of a large cohort of 109 haemophilia patients from Cuba using a gene panel with next generation sequencing-based technology Borras, Nina; Castillo-Gonzalez, Dunia; Comes, Natalia; Martin-Fernandez, Laura; Antonio Rivero-Jimenez, Rene; Chang-Monteagudo, Arturo; Ruiz-Moleon, Vera; Garrote-Santana, Heidys; Vidal, Francisco; Macias-Abraham, Consuelo 分享 收藏
Type 2N VWD: Conclusions from the Spanish PCM-EVW-ES project Perez-Rodriguez, Almudena; Batlle, Javier; Costa Pinto, Joana; Corrales, Irene; Borras, Nina; Garcia-Martinez, Iris; Rosa Cid, Ana; Bonanad, Santiago; Parra, Rafael; Mingot-Castellano, Maria Eva; Navarro, Nira; Altisent, Carmen; Perez-Montes, Rocio; Moreto, Ana; Herrero, Sonia; Soto, Inmaculada; Fernandez Mosteirin, Nuria; Jimenez-Yuste, Victor; de Andres Jacob, Aurora; Fontanes, Emilia; Mateo, Jose; Castro Quismondo, Nerea; Batlle, Fernando; Vidal, Francisco; Lopez-Fernandez, Maria Fernanda 分享 收藏
Evaluation of the Spanish population coverage of a prospective HLA haplobank of induced pluripotent stem cells Alvarez-Palomo, Belen; Garcia-Martinez, Iris; Gayoso, Jorge; Raya, Angel; Veiga, Anna; Abad, Maria Luisa; Eiras, Adolfo; Guzman-Fulgencio, Maria; Luis-Hidalgo, Mar; Eguizabal, Cristina; Santos, Silvia; Balas, Antonio; Alenda, Raquel; Sanchez-Gordo, Francisco; Verdugo, Laura Ponce; Villa, Juliana; Carreras, Enric; Vidal, Francisco; Madrigal, Alejandro; Herrero, Maria Jose; Rudilla, Francesc; Querol, Sergi 分享 收藏
Common Genetic Variants in ABO and CLEC4M Modulate the Pharmacokinetics of Recombinant FVIII in Severe Hemophilia A Patients Garcia-Martinez, Iris; Borras, Nina; Martorell, Marta; Parra, Rafael; Altisent, Carme; Ramirez, Lorena; Alvarez-Roman, Maria Teresa; Nunez, Ramiro; Megias-Vericat, Juan Eduardo; Corrales, Irene; Alonso, Sofia; Vidal, Francisco 分享 收藏
Unraveling the Influence of Common von Willebrand factor variants on von Willebrand Disease Phenotype: An Exploratory Study on the Molecular and Clinical Profile of von Willebrand Disease in Spain Cohort von Willebrand因子常见变异对von Willebrand病表型的影响: 西班牙队列中von Willebrand病的分子和临床特征的探索性研究 Borras, Nina; Garcia-Martinez, Iris; Batlle, Javier; Perez-Rodriguez, Almudena; Parra, Rafael; Altisent, Carme; Fernanda Lopez-Fernandez, Maria; Costa Pinto, Joana; Batlle-Lopez, Fernando; Rosa Cid, Ana; Bonanad, Santiago; Cabrera, Noelia; Moret, Andres; Eva Mingot-Castellano, Maria; Navarro, Nira; Perez-Montes, Rocio; Marcellini, Shally; Moreto, Ana; Herrero, Sonia; Soto, Inmaculada; Fernandez-Mosteirin, Nuria; Jimenez-Yuste, Victor; Alonso, Nieves; de Andres-Jacob, Aurora; Fontanes, Emilia; Campos, Rosa; Jose Paloma, Maria; Bermejo, Nuria; Berrueco, Ruben; Mateo, Jose; Arribalzaga, Karmele; Marco, Pascual; Palomo, Angeles; Castro Quismondo, Nerea; Inigo, Belen; del Mar Nieto, Maria; Vidal, Rosa; Paz Martinez, Maria; Aguinaco, Reyes; Tenorio, Maria; Ferreiro, Maria; Garcia-Frade, Javier; Maria Rodriguez-Huerta, Ana; Cuesta, Jorge; Rodriguez-Gonzalez, Ramon; Garcia-Candel, Faustino; Dobon, Manuela; Aguilar, Carlos; Corrales, Irene; Vidal, Francisco 分享 收藏
Expanding the Clinical and Genetic Spectra of Primary Immunodeficiency-Related Disorders With Clinical Exome Sequencing: Expected and Unexpected Findings Rudilla, Francesc; Franco-Jarava, Clara; Martinez-Gallo, Monica; Garcia-Prat, Marina; Martin-Nalda, Andrea; Riviere, Jacques; Aguilo-Cucurull, Aina; Mongay, Laura; Vidal, Francisco; Solanich, Xavier; Irastorza, Inaki; Luis Santos-Perez, Juan; Tercedor Sanchez, Jesus; Cusco, Ivon; Serra, Clara; Baz-Redon, Noelia; Fernandez-Cancio, Monica; Carreras, Carmen; Manuel Vagace, Jose; Garcia-Patos, Vicenc; Pujol-Borrell, Ricardo; Soler-Palacin, Pere; Colobran, Roger 分享 收藏
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