Carme Altisent

Rapid Hemophilia A Molecular Diagnosis by a Simple DNA Sequencing Procedure: Identification of 14 Novel Mutations

Francisco Vidal, Elisenda Farssac, Carme Altisent et al. · Thrombosis and Haemostasis · 2001 · 67 citations

Medicine, Genetics, Molecular Genetics +15

Molecular and clinical profile of von Willebrand disease in Spain (PCM-EVW-ES): comprehensive genetic analysis by next-generation sequencing of 480 patients

Nina Borràs, Javier Batlle, Almudena Pérez‐Rodríguez et al. · Haematologica · 2017 · 60 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Rapid molecular diagnosis of von Willebrand disease by direct sequencing. Detection of 12 novel putative mutations in VWF gene

Irene Corrales, Lorena Ramírez, Carme Altisent et al. · Thrombosis and Haemostasis · 2009 · 55 citations

Medicine, Genetics, Molecular Genetics +17

The study of the effect of splicing mutations in von Willebrand factor using RNA isolated from patients’ platelets and leukocytes

Irene Corrales, Carme Altisent, R. Parra et al. · Journal of Thrombosis and Haemostasis · 2011 · 27 citations

Life Sciences, Genetics, Hematology +14

Factor IX gene sequencing by a simple and sensitive 15-hour procedure for haemophilia B diagnosis: identification of two novel mutations. SHORT REPORT

Francisco Vidal, Elisenda Farssac, Carme Altisent et al. · British Journal of Haematology · 2000 · 26 citations

Life Sciences, Genetics, Molecular Genetics +12