Editorial: Improving medical diagnosis in rare diseases

por Linhares, Natália Duarte, Gorman, Kathleen M, Brusco, Alfredo
Publicado 2022

Nephrotic syndrome and adrenal insufficiency caused by a variant in SGPL1

por Linhares, Natália Duarte, Arantes, Rodrigo Rezende, Araujo, Stanley Almeida, Pena, Sergio D J
Publicado 2018

Mild Phenotype of Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome 1 Caused by a Novel VPS33B Variant

por Linhares, Natália Duarte, Fagundes, Eleonora Druve Tavares, Ferreira, Alexandre Rodrigues, Queiroz, Thaís Costa Nascentes, da Silva, Luiz Roberto, Pena, Sergio D. J.
Publicado 2022

1p13.2 deletion displays clinical features overlapping Noonan syndrome, likely related to NRAS gene haploinsufficiency

por Linhares, Natália Duarte, Freire, Maíra Cristina Menezes, Cardenas, Raony Guimarães Corrêa do Carmo Lisboa, Pena, Heloisa Barbosa, Lachlan, Katherine, Dallapiccola, Bruno, Bacino, Carlos, Delobel, Bruno, James, Paul, Thuresson, Ann-Charlotte, Annerén, Göran, Pena, Sérgio D. J.
Publicado 2016