Found: 5

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

  • High penetrance of acute intermittent porphyria in a Spanish founder mutation population and CYP2D6 genotype as a susceptibility factor.

    Published in:
    2019
    By:
    • Barreda-Sánchez, María;
    • Buendía-Martínez, Juan;
    • Glover-López, Guillermo;
    • Carazo-Díaz, Carmen;
    • Ballesta-Martínez, María Juliana;
    • López-González, Vanesa;
    • Sánchez-Soler, María José;
    • Rodriguez-Peña, Lidya;
    • Serrano-Antón, Ana Teresa;
    • Gil-Ferrer, Remedios;
    • Martínez-Romero, Maria del Carmen;
    • Carbonell-Meseguer, Pablo;
    • Guillén-Navarro, Encarna
    Publication type:
    journal article

  • Validation of clinical exome sequencing in the diagnostic procedure of patients with intellectual disability in clinical practice.

    Published in:
    Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02809-z
    By:
    • Ballesta-Martínez, María Juliana;
    • Pérez-Fernández, Virginia;
    • López-González, Vanesa;
    • Sánchez-Soler, María José;
    • Serrano-Antón, Ana Teresa;
    • Rodríguez-Peña, Lidia Isolina;
    • Barreda-Sánchez, Maria;
    • Armengol-Dulcet, Lluís;
    • Guillén-Navarro, Encarna
    Publication type:
    Article

  • Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome.

    Published in:
    Human Genetics, 2021, v. 140, n. 7, p. 1061, doi. 10.1007/s00439-021-02274-3
    By:
    • Li, Dong;
    • March, Michael E.;
    • Fortugno, Paola;
    • Cox, Liza L.;
    • Matsuoka, Leticia S.;
    • Monetta, Rosanna;
    • Seiler, Christoph;
    • Pyle, Louise C.;
    • Bedoukian, Emma C.;
    • Sánchez-Soler, María José;
    • Caluseriu, Oana;
    • Grand, Katheryn;
    • Tam, Allison;
    • Aycinena, Alicia R. P.;
    • Camerota, Letizia;
    • Guo, Yiran;
    • Sleiman, Patrick;
    • Callewaert, Bert;
    • Kumps, Candy;
    • Dheedene, Annelies
    Publication type:
    Article

  • Health impact of acute intermittent porphyria in latent and non-recurrent attacks patients.

    Published in:
    2021
    By:
    • Buendía-Martínez, Juan;
    • Barreda-Sánchez, María;
    • Rodríguez-Peña, Lidya;
    • Ballesta-Martínez, María Juliana;
    • López-González, Vanesa;
    • Sánchez-Soler, María José;
    • Serrano-Antón, Ana Teresa;
    • Pérez-Tomás, María Elena;
    • Gil-Ferrer, Remedios;
    • Avilés-Plaza, Francisco;
    • Glover-López, Guillermo;
    • Carazo-Díaz, Carmen;
    • Guillén-Navarro, Encarna
    Publication type:
    journal 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