All Stories

  1. Determination of genotypic and clinical characteristics of Colombian patients with mucopolysaccharidosis IVA

    Article • The Application of Clinical Genetics, April 2018, Dove Medical Press

    Dr Angela M Martin, sandra milena tapiero rodriguez

  2. Novel mutation of FKBP10 in a pediatric patient with osteogenesis imperfecta type XI identified by clinical exome sequencing

    Article • The Application of Clinical Genetics, November 2017, Dove Medical Press

    Dr Angela M Martin, Jessica Morales Manrique

  3. Sanfilippo Syndrome in Boyaca, Colombia

    Article • Journal of Child Neurology, October 2016, SAGE Publications

    Dr Angela M Martin

  4. SHOX gene and conserved noncoding element deletions/duplications in C olombian patients with idiopathic short stature

    Article • Molecular Genetics & Genomic Medicine, October 2013, Wiley

    Dr Angela M Martin