Detection of Mosaic Variants in Mothers of MPS II Patients by Next Generation Sequencing

por Oliveira Netto, Alice Brinckmann, Brusius-Facchin, Ana Carolina, Leistner-Segal, Sandra, Kubaski, Francyne, Josahkian, Juliana, Giugliani, Roberto
Publicado 2021

Updated birth prevalence and relative frequency of mucopolysaccharidoses across Brazilian regions

por Josahkian, Juliana Alves, Trapp, Franciele Barbosa, Burin, Maira Graeff, Michelin-Tirelli, Kristiane, de Magalhães, Ana Paula Pereira Scholz, Sebastião, Fernanda Medeiros, Bender, Fernanda, Mari, Jurema Fátima De, Brusius-Facchin, Ana Carolina, Leistner-Segal, Sandra, Málaga, Diana Rojas, Giugliani, Roberto
Publicado 2021