Publications in collaboration with researchers from Universidad Autónoma de Madrid (3)

2024

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

    Clinical Genetics, Vol. 106, Núm. 5, pp. 614-624

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