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American Journal of Medical Genetics. Part A|August 3, 2018
Femoral-facial syndrome: A review of the literature and 14 additional patients including a monozygotic discordant twin pairMaria Dora Jazmin Lacarrubba-Flores, Daniel Rocha Carvalho, Erlane Marques Ribeiro, et al.
Revista Da Associacao Medica Brasileira (1992)|August 20, 2025
Assessing the impact of exome sequencing on diagnostic yield in a large cohort of Brazilian patientsAline Cristiane Planello, Thereza Loureiro, Dayse Alencar-Cupertino, et al.
American Journal of Medical Genetics. Part A|March 8, 2026
VariantMatcher: Phenotypic and Genomic Data Sharing to Facilitate Variant Classification and Disease Gene DiscoveryDarine Villela, Marcelo Szeremeta, Joselito Sobreira, et al.
Molecular Genetics and Metabolism Reports|June 27, 2024
Germline variant analysis from a cohort of patients with severe hypertriglyceridemia in BrazilCamila Mendes, Thereza Loureiro, Darine Villela, et al.
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