Visualitza per autor "Blasco Perez, Laura"
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Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G>C Variant in SMN2
Blasco Perez, Laura; Costa Roger, Mar; Leno Colorado, Jorge; Bernal, Sara; Alias, Laura; Codina Solà, Marta; Martínez Cruz, Desirée; Sotoca Fernández, Javier; Juntas Morales, Raul; Costa Comellas, Laura; Munell Casadesus, Francina; Cuscó Martín, Ivon; Tizzano Ferrari, Eduardo Fidel (MDPI, 2022-07-27) -
Recommendations for Interpreting and Reporting Silent Carrier and Disease-Modifying Variants in SMA Testing Workflows
Milligan, John; Blasco Perez, Laura; Costa Roger, Mar; Codina Solà, Marta; Tizzano Ferrari, Eduardo Fidel (MDPI, 2022-09-15) -
The Importance of Digging into the Genetics of SMN Genes in the Therapeutic Scenario of Spinal Muscular Atrophy
Costa Roger, Mar; Blasco Perez, Laura; Cuscó Martín, Ivon; Tizzano Ferrari, Eduardo Fidel (MDPI, 2021-08) -
Three years pilot of spinal muscular atrophy newborn screening turned into official program in Southern Belgium
Boemer, François; Caberg, Jean‑Hubert; Beckers, Pablo; Dideberg, Vinciane; di Fiore, Samantha; Bours, Vincent; Blasco Perez, Laura; Tizzano Ferrari, Eduardo Fidel (Nature Research, 2021-10-07)