Publicaciones en colaboración con investigadores/as de French Institute of Health and Medical Research (8)

2018

  1. Repurposing ciclopirox as a pharmacological chaperone in a model of congenital erythropoietic porphyria

    Science Translational Medicine, Vol. 10, Núm. 459

2015

  1. Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1

    American Journal of Medical Genetics, Part A, Vol. 167, Núm. 2, pp. 296-312

2010

  1. Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies

    Human Mutation, Vol. 31, Núm. 5

2006

  1. Erratum: Preventing neural tube defects in Europe: A missed opportunity (Reproductive Toxicology (2005) 20 (393-402) DOI: 10.1016/j.reprotox.2005.03. 009)

    Reproductive Toxicology

2005

  1. Prenatal diagnosis of severe structural congenital malformations in Europe

    Ultrasound in Obstetrics and Gynecology, Vol. 25, Núm. 1, pp. 6-11

  2. Preventing neural tube defects in Europe: A missed opportunity

    Reproductive Toxicology, Vol. 20, Núm. 3, pp. 393-402

  3. Trends and geographic inequalities in the prevalence of Down syndrome in Europe, 1980-1999

    Revue d'Epidemiologie et de Sante Publique

2004

  1. Prenatal diagnostic procedures used in pregnancies with congenital malformations in 14 regions of Europe

    Prenatal Diagnosis, Vol. 24, Núm. 11, pp. 908-912