Publications in collaboration with researchers from University of Manchester (2)

2016

  1. Small 6q16.1 Deletions Encompassing POU3F2 Cause Susceptibility to Obesity and Variable Developmental Delay with Intellectual Disability

    American Journal of Human Genetics, Vol. 98, Núm. 2, pp. 363-372

2011

  1. Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease

    Orphanet Journal of Rare Diseases, Vol. 6, Núm. 1