Found: 10

Select item for more details and to access through your institution.

  • Moebius-Poland syndrome and hypogonadotropic hypogonadism.

    Published in:
    2008
    By:
    • De Lara, Diego López;
    • Cruz-Rojo, Jaime;
    • Del Pozo, Jaime Sánchez;
    • Gómez, Maria Elena Gallego;
    • Valera, Gregorio Lledó
    Publication type:
    Report

  • Does opening a milk bank in a neonatal unit change infant feeding practices? A before and after study.

    Published in:
    International Breastfeeding Journal, 2010, v. 5, p. 4, doi. 10.1186/1746-4358-5-4
    By:
    • Torres, María Isabel Utrera;
    • López, Carmen Medina;
    • Román, Sara Vázquez;
    • Díaz, Clara Alonso;
    • Cruz-Rojo, Jaime;
    • Cooke, Elisa Fernández;
    • Alonso, Carmen R. Pallás
    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

  • The p.R56* mutation in PTHLH causes variable brachydactyly type E.

    Published in:
    American Journal of Medical Genetics. Part A, 2017, v. 173, n. 3, p. 816, doi. 10.1002/ajmg.a.38067
    By:
    • Pereda, Arrate;
    • Garzon‐Lorenzo, Lucia;
    • Garin, Intza;
    • Cruz‐Rojo, Jaime;
    • Sanchez del Pozo, Jaime;
    • Perez de Nanclares, Guiomar
    Publication type:
    Article

  • High prevalence of variants in skeletal dysplasia associated genes in individuals with short stature and minor skeletal anomalies.

    Published in:
    European Journal of Endocrinology, 2021, v. 185, n. 5, p. 691, doi. 10.1530/EJE-21-0557
    By:
    • Sentchordi-Montané, Lucía;
    • Benito-Sanz, Sara;
    • Aza-Carmona, Miriam;
    • Díaz-González, Francisca;
    • Modamio-Høybjør, Silvia;
    • de la Torre, Carolina;
    • Nevado, Julián;
    • Ruiz-Ocaña, Pablo;
    • Bezanilla-López, Carolina;
    • Prieto, Pablo;
    • Bahíllo-Curieses, Pilar;
    • Carcavilla, Atilano;
    • Mulero-Collantes, Inés;
    • Barreda-Bonis, Ana C.;
    • Cruz-Rojo, Jaime;
    • Ramírez-Fernández, Joaquín;
    • Bermúdez de la Vega, José Antonio;
    • Travessa, André M.;
    • de Buitrago Amigo, Jesús González;
    • del Pozo, Angela
    Publication type:
    Article

  • Primary Immune Regulatory Disorders With an Autoimmune Lymphoproliferative Syndrome-Like Phenotype: Immunologic Evaluation, Early Diagnosis and Management.

    Published in:
    Frontiers in Immunology, 2021, v. 12, p. 1, doi. 10.3389/fimmu.2021.671755
    By:
    • López-Nevado, Marta;
    • González-Granado, Luis I.;
    • Ruiz-García, Raquel;
    • Pleguezuelo, Daniel;
    • Cabrera-Marante, Oscar;
    • Salmón, Nerea;
    • Blanco-Lobo, Pilar;
    • Domínguez-Pinilla, Nerea;
    • Rodríguez-Pena, Rebeca;
    • Sebastián, Elena;
    • Cruz-Rojo, Jaime;
    • Olbrich, Peter;
    • Ruiz-Contreras, Jesús;
    • Paz-Artal, Estela;
    • Neth, Olaf;
    • Allende, Luis M.
    Publication type:
    Article

  • EDA, EDAR, EDARADD and WNT10A allelic variants in patients with ectodermal derivative impairment in the Spanish population.

    Published in:
    2019
    By:
    • Martínez-Romero, María Carmen;
    • Ballesta-Martínez, María Juliana;
    • López-González, Vanesa;
    • Sánchez-Soler, María José;
    • Serrano-Antón, Ana Teresa;
    • Barreda-Sánchez, María;
    • Rodriguez-Peña, Lidya;
    • Martínez-Menchon, María Teresa;
    • Frías-Iniesta, José;
    • Sánchez-Pedreño, Paloma;
    • Carbonell-Meseguer, Pablo;
    • Glover-López, Guillermo;
    • Guillén-Navarro, Encarna;
    • GIEDE (Spanish multidisciplinary research group for ectodermal dysplasia);
    • Alcalá-García, Rebeca;
    • Barcia-Ramírez, Ana;
    • Cruz-Rojo, Jaime;
    • Gener-Querol, Blanca;
    • Hernández-Martín, Angela;
    • Lapunzina-Badía, Pablo
    Publication type:
    journal article

  • International Analysis of Electronic Health Records of Children and Youth Hospitalized With COVID-19 Infection in 6 Countries.

    Published in:
    JAMA Network Open, 2021, v. 4, n. 6, p. e2112596, doi. 10.1001/jamanetworkopen.2021.12596
    By:
    • Bourgeois, Florence T.;
    • Gutiérrez-Sacristán, Alba;
    • Keller, Mark S.;
    • Liu, Molei;
    • Hong, Chuan;
    • Bonzel, Clara-Lea;
    • Tan, Amelia L. M.;
    • Aronow, Bruce J.;
    • Boeker, Martin;
    • Booth, John;
    • Cruz Rojo, Jaime;
    • Devkota, Batsal;
    • García Barrio, Noelia;
    • Gehlenborg, Nils;
    • Geva, Alon;
    • Hanauer, David A.;
    • Hutch, Meghan R.;
    • Issitt, Richard W.;
    • Klann, Jeffrey G.;
    • Luo, Yuan
    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

  • GATA4 Mutations Are a Cause of Neonatal and Childhood-Onset Diabetes.

    Published in:
    Diabetes, 2014, v. 63, n. 8, p. 2888, doi. 10.2337/db14-0061
    By:
    • Shaw-Smith, Charles;
    • De Franco, Elisa;
    • Allen, Hana Lango;
    • Batlle, Marta;
    • Flanagan, Sarah E.;
    • Borowiec, Maciej;
    • Taplin, Craig E.;
    • van Alfen-van der Velden, Janiëlle;
    • Cruz-Rojo, Jaime;
    • Perez de Nanclares, Guiomar;
    • Miedzybrodzka, Zosia;
    • Deja, Grazyna;
    • Wlodarska, Iwona;
    • Mlynarski, Wojciech;
    • Ferrer, Jorge;
    • Hattersley, Andrew T.;
    • Ellard, Sian
    Publication type:
    Article