Publikationen in Zusammenarbeit mit Forschern von Universidad Autónoma de Madrid (3)

2024

  1. Identification of copy-number variants in patients with overgrowth disorders

    Clinical Genetics

2014

  1. Two mutations in IFITM5 causing distinct forms of osteogenesis imperfecta

    American Journal of Medical Genetics, Part A, Vol. 164, Núm. 5, pp. 1136-1142

2012

  1. Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome-Osteogenesis imperfecta phenotypic spectrum

    Human Mutation, Vol. 33, Núm. 10, pp. 1444-1449