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  • PRPH2 -Related Retinal Dystrophies: Mutational Spectrum in 103 Families from a Spanish Cohort.

    Published in:
    International Journal of Molecular Sciences, 2024, v. 25, n. 5, p. 2913, doi. 10.3390/ijms25052913
    By:
    • Fernández-Caballero, Lidia;
    • Martín-Merida, Inmaculada;
    • Blanco-Kelly, Fiona;
    • Avila-Fernandez, Almudena;
    • Carreño, Ester;
    • Fernandez-San Jose, Patricia;
    • Irigoyen, Cristina;
    • Jimenez-Rolando, Belen;
    • Lopez-Grondona, Fermina;
    • Mahillo, Ignacio;
    • Martin-Gutierrez, María Pilar;
    • Minguez, Pablo;
    • Perea-Romero, Irene;
    • Del Pozo-Valero, Marta;
    • Riveiro-Alvarez, Rosa;
    • Rodilla, Cristina;
    • Rodriguez-Peña, Lidya;
    • Sánchez-Barbero, Ana Isabel;
    • Swafiri, Saoud T.;
    • Trujillo-Tiebas, María José
    Publication type:
    Article

  • Genetic background of congenital aniridia.

    Published in:
    2024
    By:
    • Damian, Alejandra;
    • Blanco‐Kelly, Fiona;
    • Tamayo, Alejandra;
    • Swafiri, Saoud T.;
    • Villaverde, Cristina;
    • Ruiz‐Sánchez, Carolina;
    • Tory, Kálmán;
    • Szentmáry, Nóra;
    • Ayuso, Carmen;
    • Corton, Marta
    Publication type:
    Abstract