Found: 3

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  • Transient Congenital Hypoparathyroidism and 22qll Deletion.

    Published in:
    Journal of Pediatric Endocrinology & Metabolism, 2000, v. 13, n. 6, p. 659
    By:
    • García-García, Emilio;
    • Camacho-Alonso, Jose;
    • Gómez-Rodríguez, María J.;
    • Castillo, Emilia del;
    • Martínez-Aedo, María J.;
    • López-Siguero, Juan P.
    Publication type:
    Article
  • Novel Germline TET2 Mutations in Two Unrelated Patients with Autoimmune Lymphoproliferative Syndrome-Like Phenotype and Hematologic Malignancy.

    Published in:
    Journal of Clinical Immunology, 2023, v. 43, n. 1, p. 165, doi. 10.1007/s10875-022-01361-y
    By:
    • López-Nevado, Marta;
    • Ortiz-Martín, Javier;
    • Serrano, Cristina;
    • Pérez-Saez, María A.;
    • López-Lorenzo, José L.;
    • Gil-Etayo, Francisco J.;
    • Rodríguez-Frías, Edgar;
    • Cabrera-Marante, Oscar;
    • Morales-Pérez, Pablo;
    • Rodríguez-Pinilla, María S.;
    • Manso, Rebeca;
    • Salgado-Sánchez, Rocío N.;
    • Cerdá-Montagud, Ana;
    • Quesada-Espinosa, Juan F.;
    • Gómez-Rodríguez, María J.;
    • Paz-Artal, Estela;
    • Muñoz-Calleja, Cecilia;
    • Arranz-Sáez, Reyes;
    • Allende, Luis M.
    Publication type:
    Article
  • 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