Showing 1 - 3 results of 3 for search 'Elena Aller', query time: 0.01s Refine Results
  1. 1
    Outcomes of a Pilot Newborn Screening Program for Spinal Muscular Atrophy in the Valencian Community

    Outcomes of a Pilot Newborn Screening Program for Spinal Muscular Atrophy in the Valencian Community by Alba Berzal-Serrano, Belén García-Bohórquez, Elena Aller, Teresa Jaijo, Inmaculada Pitarch-Castellano, Dolores Rausell, Gema García-García, José M. Millán

    Published 2025-01-01
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  2. 2
    Two novel mutations in TBC1D32 add complexity to the oro-facial-digital syndrome

    Two novel mutations in TBC1D32 add complexity to the oro-facial-digital syndrome by Belén García-Bohórquez, Purificación Marín-Reina, Elena Aller, Pilar Barberán-Martínez, Miguel Armengot, Roberto Llorens-Salvador, Inmaculada Concepción Almor-Palacios, José M. Millán, Gema García-García

    Published 2025-05-01
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  3. 3
    Unravelling the pathogenic role and genotype-phenotype correlation of the USH2A p.(Cys759Phe) variant among Spanish families.

    Unravelling the pathogenic role and genotype-phenotype correlation of the USH2A p.(Cys759Phe) variant among Spanish families. by Raquel Pérez-Carro, Fiona Blanco-Kelly, Lilián Galbis-Martínez, Gema García-García, Elena Aller, Blanca García-Sandoval, Pablo Mínguez, Marta Corton, Ignacio Mahíllo-Fernández, Inmaculada Martín-Mérida, Almudena Avila-Fernández, José M Millán, Carmen Ayuso

    Published 2018-01-01
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