Diagnosis of Chediak Higashi disease in a 67-year old woman (2020)
Artigo em Revista Científica Internacional
Yarnell, DS; Roney, JC; Teixeira, C; Freitas, MI; Cipriano, A; Leuschner, P; Krzewski, K; Stephen, J; Dorward, H; Gahl, WA; Gochuico, BR; Toro, C; Malicdan, MC; Introne, WJ

Intellectual disability and overgrowthA new case of 19p13.13 microdeletion syndrome with digital abnormalities (2015)
Artigo em Revista Científica Internacional
Jorge, R; Silva, C; Agueda, S; doria, s; Leao, M

Expanding the genetic spectrum of ALKU syndrome: Compound heterozygosity for two deleterious variants in SMG8 gene (2023)
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Fernandes, AA; Grangeia, A; Dias, L; Guimaraes, J

Congenital heart defects associated with pathogenic variants in WAC gene: Expanding the phenotypic and genotypic spectrum of DeSanto-Shinawi syndrome (2022)
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Quental, R; Goncalves, D; Rodrigues, E; Goncalves, ES; Oliveira, J; Freixo, JP; Leao, M