Showing 1 - 3 results of 3 for search 'Elvira Salvador-Rupérez', query time: 0.03s Refine Results
  1. 1
    A novel pathogenic splice-site variant in the PTCH1 gene c.3549+1G>T, associated with Gorlin syndrome: a case report

    A novel pathogenic splice-site variant in the PTCH1 gene c.3549+1G>T, associated with Gorlin syndrome: a case report by Paula Conde-Rubio, Ana Julia García-Malinis, Elvira Salvador-Rupérez, Silvia Izquierdo Álvarez, Ricardo González-Tarancón

    Published 2023-12-01
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  2. 2
    Association Between VDR and CYP24A1 Polymorphisms, Atopic Dermatitis, and Biochemical Lipid and Vitamin D Profiles in Spanish Population: Case-Control Study

    Association Between VDR and CYP24A1 Polymorphisms, Atopic Dermatitis, and Biochemical Lipid and Vitamin D Profiles in Spanish Population: Case-Control Study by Ricardo González-Tarancón, Nuria Goñi-Ros, Elvira Salvador-Rupérez, Ángela Hernández-Martín, Silvia Izquierdo-Álvarez, José Puzo-Foncillas, Yolanda Gilaberte-Calzada

    Published 2023-06-01
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  3. 3
    A novel mutation in the SOX5 gene c.1627del; p.(Tyr543IlefsTer14) is associated to Lamb–Shaffer syndrome: a case report

    A novel mutation in the SOX5 gene c.1627del; p.(Tyr543IlefsTer14) is associated to Lamb–Shaffer syndrome: a case report by Jose Cuenca Alcocel, Elena Criado Álamo, Elvira Salvador-Rupérez, Nuria Goñi Ros, Silvia Izquierdo Álvarez, Jose Luis Peña Segura, Ricardo González-Tarancón

    Published 2023-04-01
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