Nina Borràs - Congenital Coagulopathies Lab, Blood & Tissue Bank

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论文共 21 篇作者统计合作学者相似作者

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Identification of New Therapeutic Targets and Biomarkers in Patients with Ascending Aortic Aneurysm According with Their Genetic Heterogeneity

Maria Galan,Rafael Almendra-Pegueros, Antonio Jose Barros, Juan Francisco Tabilo, Miriam Dominguez-Tenreiro, Laura Martin Fernandez, Elvira Perez-Marlasca,Nina Borras, Francisco Vidal,Jose Martinez-Gonzalez,Cristina Rodriguez

ATHEROSCLEROSIS (2024)

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Gaining Insights into Inherited Bleeding Disorders of Complex Etiology in Pediatric Patients: Whole-Exome Sequencing As First-Line Investigation Tool

Perla Bandini,Nina Borras,Ruben Berrueco,Susanna Gassiot,Laura Martin-Fernandez,Edurne Sarrate,Natalia Comes,Lorena Ramirez,Carlos Hobeich,Francisco Vidal,Irene Corrales

Thrombosis and haemostasis (2023)

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First description of bone marrow failure syndrome in Spain caused by mutations in the ERCC6L2 gene

Perla Bandini,Nina Borras,Eugenia Fernandez Mellid,Laura Martin-Fernandez,Paula Melero Valentin,Natalia Comes,Lorena Ramirez,Patricia Cadahia Fernandez, Matilde Rodriguez Ruiz,Manuel Mateo Perez Encinas,Francisco Vidal,Irene Corrales

British journal of haematology（2023）

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First description of a bone marrow failure syndrome in Spain caused by compound heterozygous truncating mutations in ERCC6L2

Perla Bandini,Nina Borras,Laura Martin-Fernandez, Eugenia Fernandez-Mellid, Paula Melero-Valentin,Natalia Comes,Lorena Ramirez,Patricia Cadahia Fernandez, Matilde Rodriguez Ruiz,Manuel Mateo Perez Encinas,Francisco Vidal,Irene Corrales

EUROPEAN JOURNAL OF HUMAN GENETICS (2023): 438-438

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Molecular Dissection of Structural Variations Involved in Antithrombin Deficiency

Belen de la Morena-Barrio,Christelle Orlando,Alba Sanchis-Juan,Juan L. Garcia,Jose Padilla,Maria E. de la Morena-Barrio, Marija Puruunen,Katrien Stouffs,Rosa Cifuentes,Nina Borras,Carlos Bravo-Perez,Rocio Benito,Javier Cuenca-Guardiola,Vicente,Francisco Vidal,Jesus M. Hernandez-Rivas,Willem Ouwehand,Kristin Jochmans,Javier Corral

Journal of Molecular Diagnosticsno. 5 (2022): 462-475

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Molecular Study of a Large Cohort of 109 Haemophilia Patients from Cuba Using a Gene Panel with Next Generation Sequencing-Based Technology

Nina Borras,Dunia Castillo-Gonzalez,Natalia Comes,Laura Martin-Fernandez,Rene Antonio Rivero-Jimenez,Arturo Chang-Monteagudo, Vera Ruiz-Moleon, Heidys Garrote-Santana,Francisco Vidal,Consuelo Macias-Abraham

Haemophilia（2021）

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IX International Curse of Continuing Formation in Haemophilia and Other Congenital Coagulopathies. the Role of the Laboratory in Coagulation Disorders. Diagnosis of Von Willebrand Disease

Javier Batlle,Almudena Perez-Rodrigueza,Irene Corrales,Nina Borras,Joana Costa Pinto,Maria Fernanda Lopez-Fernandez,Francisco Vidal

Blood coagulation & fibrinolysis（2021）

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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

Nina Borras,Iris Garcia-Martinez,Javier Batlle,Almudena Perez-Rodriguez,Rafael Parra,Carme Altisent,Maria Fernanda Lopez-Fernandez,Joana Costa Pinto, Fernando Batlle-Lopez,Ana Rosa Cid,Santiago Bonanad,Noelia Cabrera,Andres Moret,Maria Eva Mingot-Castellano,Nira Navarro,Rocio Perez-Montes,Shally Marcellini,Ana Moreto,Sonia Herrero, Inmaculada Soto,Nuria Fernandez-Mosteirin,Victor Jimenez-Yuste,Nieves Alonso, Aurora de Andres-Jacob,Emilia Fontanes,Rosa Campos,Maria Jose Paloma,Nuria Bermejo,Ruben Berrueco,Jose Mateo,Karmele Arribalzaga,Pascual Marco,Angeles Palomo,Nerea Castro Quismondo,Belen Inigo,Maria del Mar Nieto,Rosa Vidal,Maria Paz Martinez,Reyes Aguinaco,Maria Tenorio,Maria Ferreiro,Javier Garcia-Frade,Ana Maria Rodriguez-Huerta,Jorge Cuesta,Ramon Rodriguez-Gonzalez,Faustino Garcia-Candel,Manuela Dobon,Carlos Aguilar,Irene Corrales,Francisco Vidal

Thrombosis and haemostasis（2020）

引用3浏览0WOS引用

Integral approach to the genetic diagnostic of a large Spanish cohort with congenital bleeding disorders by means of an NGS gene panel

Francisco Vidal,Lorena Ramirez,Natalia Comes,Nina Borras,Irene Corrales,Carmen Altisent,Rafael Parra

HAEMOPHILIA（2020）

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