Publikationen in Zusammenarbeit mit Forschern von University Hospital of Lausanne (5)

2014

  1. Exome sequencing identifies CTSK mutations in patients originally diagnosed as intermediate osteopetrosis

    Bone, Vol. 59, pp. 122-126

2013

  1. MLL2 mutation detection in 86 patients with Kabuki syndrome: A genotype-phenotype study

    Clinical Genetics, Vol. 84, Núm. 6, pp. 539-545

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. Preventing neural tube defects in Europe: A missed opportunity

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

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