Growth Hormone insensitivity (Laron syndrome): Report of a new family and review of Brazilian patients

por Villela, Thais R., Freire, Bruna L., Braga, Nathalia T. P., Arantes, Rodrigo R., Funari, Mariana F. A., Alexander, Jorge A L, Silva, Ivani N.
Publicado 2020

A thermosensitive PCNA allele underlies an ataxia-telangiectasia-like disorder

por Magrino, Joseph, Munford, Veridiana, Martins, Davi Jardim, Homma, Thais K., Page, Brendan, Gaubitz, Christl, Freire, Bruna L., Lerario, Antonio M., Vilar, Juliana Brandstetter, Amorin, Antonio, Leão, Emília K.E., Kok, Fernando, Menck, Carlos FM., Jorge, Alexander AL., Kelch, Brian A.
Publicado 2023

Diagnostic yield of a multigene sequencing approach in children classified as idiopathic short stature

por Andrade, Nathalia Liberatoscioli Menezes, Funari, Mariana Ferreira de Assis, Malaquias, Alexsandra Christianne, Collett-Solberg, Paulo Ferrez, Gomes, Nathalia L R A, Scalco, Renata, Dantas, Naiara Castelo Branco, Rezende, Raissa C, Tiburcio, Angelica M F P, Souza, Micheline A R, Freire, Bruna L, Krepischi, Ana C V, Longui, Carlos Alberto, Lerario, Antonio Marcondes, Arnhold, Ivo J P, Jorge, Alexander A L, Vasques, Gabriela Andrade
Publicado 2022