Navegação por Autor "Zatz, Mayana"
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Challenges and recommendations to increasing the use of exome sequencing and whole genome sequencing for diagnosing rare diseases in Brazil : an expert perspective
Felix, Temis Maria; Souza, Carolina Fischinger Moura de; Oliveira, João Bosco; Restrepo, Mariana Rico; Zanoteli, Edmar; Zatz, Mayana; Giugliani, Roberto (2023) [Artigo de periódico]Early diagnosis of genetic rare diseases is an unmet need in Brazil, where an estimated 10-13 million people live with these conditions. Increased use of chromosome microarray assays, exome sequencing, and whole genome ...