Publications by authors named "Perla Bandini"

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Elucidating the Molecular Basis in a Cohort of Patients With Combined Bleeding Tendencies and Joint Hypermobility Manifestations.
Perla Bandini, Nina Borràs, Carme Altisent, Judith Sánchez-Raya, Laura Martin-Fernandez

Haemophilia· November 2025

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Integrating Next-Generation Sequencing Into Routine Molecular Diagnosis of Inherited Coagulation Factor Deficiencies: Real-World Data From Spanish Patients.
Nina Borràs, Natàlia Comes, Lorena Ramírez, Rafael Parra, Carmen Altisent, Perla Bandini

Haemophilia· July 2025

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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 Borràs, Ruben Berrueco, Susanna Gassiot, Laura Martin-Fernandez

Thromb Haemost· July 2024

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First description of bone marrow failure syndrome in Spain caused by mutations in the ERCC6L2 gene.
Perla Bandini, Nina Borràs, Eugenia Fernandez Mellid, Laura Martin-Fernandez, Paula Melero Valentín

Br J Haematol· November 2023

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