Laura Blasco-Pérez

Publication Activity (10 Years)

Years Active: 2021-2022
Publications (10 Years): 4

Top Topics

Peritoneal Dialysis

Prognostic Factors

Clinical Practice

Top Venues

International journal of molecular sciences

This page only lists publications with an associated author ORCID identifier.

Publications

Laura Blasco-Pérez, Mar Costa-Roger, Jordi Leno-Colorado, Sara Bernal, Laura Alias, Marta Codina Solà, Desirée Martínez-Cruz, Claudia Castiglioni, Enrico Bertini, Lorena Travaglini, José María Millán, Elena Aller, Javier Sotoca, Raúl Juntas, Christina Engel Hoei-Hansen, Antonio Moreno-Escribano, Encarna Guillén-Navarro, Laura Costa-Comellas, Francina Munell, Susana Boronat, Ricardo Rojas-García, Mónica Povedano, Ivon Cusco, Eduardo F Tizzano
Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G>C Variant in SMN2 . International journal of molecular sciences 23 (15) (2022)
John N Milligan, Laura Blasco-Pérez, Mar Costa-Roger, Marta Codina Solà, Eduardo F Tizzano
Recommendations for Interpreting and Reporting Silent Carrier and Disease-Modifying Variants in SMA Testing Workflows. Genes 13 (9) (2022)
Laura Blasco-Pérez, Ida Paramonov, Jordi Leno-Colorado, Sara Bernal, Laura Alias, Pablo Fuentes-Prior, Ivon Cusco, Eduardo F Tizzano
Beyond copy number: A new, rapid, and versatile method for sequencing the entire SMN2 gene in SMA patients. Human mutation 42 (6) (2021)
Mar Costa-Roger, Laura Blasco-Pérez, Ivon Cuscó, Eduardo F Tizzano
The Importance of Digging into the Genetics of SMN Genes in the Therapeutic Scenario of Spinal Muscular Atrophy. International journal of molecular sciences 22 (16) (2021)