publicações selecionadas
- Gene expression profile suggesting immunological dysregulation in two Brazilian Bloom´s syndrome cases
- Frequency of carriers for rare recessive Mendelian diseases in a Brazilian cohort of 320 patients
- Impact of ERT and follow-up of 17 patients from the same family with a mild form of MPS II
- Diagnostic power and clinical impact of exome sequencing in a cohort of 500 patients with rare diseases