Found: 3

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  • First female with Allan-Herndon-Dudley syndrome and partial deletion of X-inactivation center.

    Published in:
    Neurogenetics, 2021, v. 22, n. 4, p. 343, doi. 10.1007/s10048-021-00660-7
    By:
    • Quesada-Espinosa, Juan F.;
    • Garzón-Lorenzo, Lucía;
    • Lezana-Rosales, José M.;
    • Gómez-Rodríguez, María J.;
    • Sánchez-Calvin, María T.;
    • Palma-Milla, Carmen;
    • Gómez-Manjón, Irene;
    • Hidalgo-Mayoral, Irene;
    • Pérez de la Fuente, Rubén;
    • Arteche-López, Ana;
    • Álvarez-Mora, María I.;
    • Camacho-Salas, Ana;
    • Cruz-Rojo, Jaime;
    • Lázaro-Rodríguez, Irene;
    • Morales-Conejo, Montserrat;
    • Nuñez-Enamorado, Noemí;
    • Bustamante-Aragones, Ana;
    • Simón de las Heras, Rogelio;
    • Gomez-Cano, María A.;
    • Ramos-Gómez, Patricia
    Publication type:
    Article

  • Rapid Molecular Diagnosis of Genetically Inherited Neuromuscular Disorders Using Next-Generation Sequencing Technologies.

    Published in:
    Journal of Clinical Medicine, 2022, v. 11, n. 10, p. 2750, doi. 10.3390/jcm11102750
    By:
    • Barbosa-Gouveia, Sofia;
    • Vázquez-Mosquera, Maria Eugenia;
    • González-Vioque, Emiliano;
    • Hermida-Ameijeiras, Álvaro;
    • Sánchez-Pintos, Paula;
    • de Castro, Maria José;
    • León, Soraya Ramiro;
    • Gil-Fournier, Belén;
    • Domínguez-González, Cristina;
    • Camacho Salas, Ana;
    • Negrão, Luis;
    • Fineza, Isabel;
    • Laranjeira, Francisco;
    • Couce, Maria Luz
    Publication type:
    Article

  • Cuidados médicos del niño al adulto: la transición en neurología.

    Published in:
    Kranion, 2024, v. 19, n. 2, p. 44, doi. 10.24875/KRANION.M24000079
    By:
    • Camacho-Salas, Ana
    Publication type:
    Article