Optimization of simultaneous screening of the main mutations involved in non-syndromic deafness using the TaqMan® OpenArray™ Genotyping Platform

por Martins, Fábio Tadeu Arrojo, Ramos, Priscila Zonzini, Svidnicki, Maria Carolina Costa Melo, Castilho, Arthur Menino, Sartorato, Edi Lúcia
Publicado 2013

Novel mutations associated with pyruvate kinase deficiency in Brazil

por Svidnicki, Maria Carolina Costa Melo, Santos, Andrey, Fernandez, Jhonathan Angel Araujo, Yokoyama, Ana Paula Hitomi, Magalhães, Isis Quezado, Pinheiro, Vitoria Regia Pereira, Brandalise, Silvia Regina, Silveira, Paulo Augusto Achucarro, Costa, Fernando Ferreira, Saad, Sara Teresinha Olalla
Publicado 2018