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Journal of Community Genetics|July 7, 2026
Characterization of individuals with skeletal dysplasia at a referral center in BrazilJ G C Meira, M P Migliavacca, A X AcostaClinical Dysmorphology|October 26, 1999
Syndrome of psychomotor retardation, bulbous nose, and epilepsy (Hernandez syndrome): a Brazilian caseD G Melo, A X Acosta, J M de Pina-NetoJournal of Genetic Counseling|January 23, 2013
Delivering genetic education and genetic counseling for rare diseases in rural BrazilA X Acosta, K Abé-Sandes, R Giugliani, et al.Human Mutation|January 4, 2001
Ten novel mutations in the phenylalanine hydroxylase gene (PAH) observed in Brazilian patients with phenylketonuriaA X Acosta, W A Silva, T M Carvalho, et al.Clinical Dysmorphology|May 29, 2000
Raine dysplasia: a Brazilian case with a mild radiological involvementA X Acosta, L C Peres, L C Chimelli, et al.The Brazilian Journal of Infectious Diseases : an Official Publication of the Brazilian Society of Infectious Diseases|June 22, 2010
Distribution of SDF1-3'A polymorphisms in three different ethnic groups from BrazilRogerio Grimaldi, A X Acosta, T M B Machado, et al.Journal of Biosocial Science|October 26, 2012
Types of marriages, population structure and genetic diseaseT M B Machado, T F Bomfim, L V Souza, et al.Molecular Genetics and Metabolism|July 20, 2001
A phenylalanine hydroxylase amino acid polymorphism with implications for molecular diagnosticsT Gjetting, A Romstad, J Haavik, et al.Bone|January 29, 2023
Genetic analysis of osteogenesis imperfecta in a large Brazilian cohortA P Holtz, L T Souza, E M Ribeiro, et al.Gene|April 10, 2013
Mucolipidosis II and III alpha/beta in Brazil: analysis of the GNPTAB geneG K Cury, U Matte, O Artigalás, et al.Pageof 2