Found: 6

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  • Tumor-induced osteomalacia in an adolescent with an undifferentiated embryonal sarcoma of the liver.

    Published in:
    2020
    By:
    • Olivas‐Mazón, Raquel;
    • Martín‐Cazaña, María;
    • Pérez‐Mohand, Patricia;
    • Garzón‐Lorenzo, Lucía;
    • Espino‐Hernández, Mar;
    • Baro‐Fernández, María;
    • Pérez‐Alonso, Vanesa;
    • Olivas-Mazón, Raquel;
    • Martín-Cazaña, María;
    • Pérez-Mohand, Patricia;
    • Garzón-Lorenzo, Lucía;
    • Espino-Hernández, Mar;
    • Baro-Fernández, María;
    • Pérez-Alonso, Vanesa
    Publication type:
    case study

  • 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

  • Clinical and Molecular Description of 16 Families With Heterozygous IHH Variants.

    Published in:
    Journal of Clinical Endocrinology & Metabolism, 2020, v. 105, n. 8, p. 1, doi. 10.1210/clinem/dgaa218
    By:
    • Sentchordi-Montané, Lucía;
    • Benito-Sanz, Sara;
    • Aza-Carmona, Miriam;
    • Pereda, Arrate;
    • Parrón-Pajares, Manuel;
    • de la Torre, Carolina;
    • Vasques, Gabriela A.;
    • Funari, Mariana F. A.;
    • Travessa, André M.;
    • Dias, Patrícia;
    • Suarez-Ortega, Larisa;
    • González-Buitrago, Jesús;
    • Portillo-Najera, Nancy Elizabeth;
    • Llano-Rivas, Isabel;
    • Martín-Frías, María;
    • Ramírez-Fernández, Joaquín;
    • del Pozo, Jaime Sánchez;
    • Garzón-Lorenzo, Lucía;
    • Martos-Moreno, Gabriel A.;
    • Alfaro-Iznaola, Cristina
    Publication type:
    Article

  • Clinical and Molecular Description of 16 Families With Heterozygous IHH Variants.

    Published in:
    2020
    By:
    • Sentchordi-Montané, Lucía;
    • Benito-Sanz, Sara;
    • Aza-Carmona, Miriam;
    • Pereda, Arrate;
    • Parrón, Manuel;
    • de la Torre, Carolina;
    • Vasques, Gabriela A;
    • Funari, Mariana F A;
    • Travessa, André M;
    • Dias, Patrícia;
    • Suarez-Ortega, Larisa;
    • González-Buitrago, Jesús;
    • Portillo-Najera, Nancy Elizabeth;
    • Llano-Rivas, Isabel;
    • Martín-Frías, María;
    • Ramírez-Fernández, Joaquín;
    • Sánchez Del Pozo, Jaime;
    • Garzón-Lorenzo, Lucía;
    • Martos-Moreno, Gabriel A;
    • Alfaro-Iznaola, Cristina
    Publication type:
    journal article

  • Functional analysis of new variants at the low‐density lipoprotein receptor associated with familial hypercholesterolemia.

    Published in:
    Human Mutation, 2019, v. 40, n. 8, p. 1181, doi. 10.1002/humu.23801
    By:
    • Rodríguez‐Jiménez, Carmen;
    • Pernía, Olga;
    • Mostaza, Jose;
    • Rodríguez‐Antolín, Carlos;
    • Dios García‐Díaz, Juan;
    • Alonso‐Cerezo, Concepción;
    • García‐Polo, Iluminada;
    • Blanco, Agustín;
    • Lahoz, Carlos;
    • Arrieta, Francisco;
    • Beltrán, Luis;
    • Díaz de Bustamante, Aránzazu;
    • Garzón‐Lorenzo, Lucía;
    • Álvarez‐Sala, Luis Antonio;
    • Asenjo, Ángel;
    • Ibáñez de Cáceres, Inmaculada;
    • Rodríguez‐Nóvoa, Sonia
    Publication type:
    Article

  • A rare male patient with Fontaine progeroid syndrome caused by p.R217H de novo mutation in SLC25A24.

    Published in:
    American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2479, doi. 10.1002/ajmg.a.40496
    By:
    • Rodríguez‐García, María Elena;
    • Cotrina‐Vinagre, Francisco Javier;
    • Cruz‐Rojo, Jaime;
    • Garzón‐Lorenzo, Lucía;
    • Carnicero‐Rodríguez, Patricia;
    • Pozo, Jaime Sánchez‐Del;
    • Martínez‐Azorín, Francisco
    Publication type:
    Article