| Epidemiology of rare diseases in Brazil: protocol of the Brazilian Rare Diseases Network (RARAS-BRDN) TM Félix, BM de Oliveira, M Artifon, I Carvalho, FA Bernardi, IVD Schwartz, ... Orphanet Journal of Rare Diseases 17 (1), 84, 2022 | 14 | 2022 |
| Two different presentations of de novo variants of CSNK2B: two case reports MVMB Wilke, BM Oliveira, A Pereira, MJR Doriqui, F Kok, CFM Souza Journal of Medical Case Reports 16, 1-6, 2022 | 9 | 2022 |
| National Network for Rare Diseases in Brazil: The Computational Infrastructure and Preliminary Results DB Yamada, FA Bernardi, MEC Filho, MB Neiva, VC Lima, ALT Vinci, ... Computational Science–ICCS 2022: 22nd International Conference, London, UK …, 2022 | 4 | 2022 |
| A triple-blinded crossover study to evaluate the short-term safety of sweet manioc starch for the treatment of glycogen storage disease type Ia VCL Monteiro, BM de Oliveira, BB Dos Santos, F Sperb-Ludwig, ... Orphanet journal of rare diseases 16 (1), 1-10, 2021 | 4 | 2021 |
| The minimum dataset for rare diseases in Brazil: a systematic review protocol FA Bernardi, DB Yamada, BM de Oliveira, VC Lima, TM Félix, D Alves Procedia Computer Science 196, 439-444, 2022 | 3 | 2022 |
| Association between genetic factors and molar-incisor hypomineralisation or hypomineralised second primary molar: A systematic review R da Silva Figueira, FWMG Muniz, LC Costa, MS de Moura, LFA de Deus, ... Archives of Oral Biology 152, 105716, 2023 | 2 | 2023 |
| The Minimum Data Set for Rare Diseases: Systematic Review FA Bernardi, B Mello de Oliveira, D Bettiol Yamada, M Artifon, AM Schmidt, ... Journal of Medical Internet Research 25, e44641, 2023 | 2 | 2023 |
| A Broad Characterization of Glycogen Storage Disease IV Patients: A Clinical, Genetic, and Histopathological Study MVMB Wilke, BM de Oliveira, RT Starosta, M Shinawi, L Lu, M He, Y Ma, ... Biomedicines 11 (2), 363, 2023 | 2 | 2023 |
| Periodontal Ehlers–Danlos syndrome in early childhood: A case report of loss of deciduous teeth RS Martins, FWMG Muniz, JO Gondim, LDS Maurique, ... Journal of Indian Society of Periodontology 27 (1), 99, 2023 | 2 | 2023 |
| Body composition in patients with hepatic glycogen storage diseases BB Dos Santos, K Colonetti, T Nalin, BM de Oliveira, CFM de Souza, ... Nutrition 103, 111763, 2022 | 2 | 2022 |
| Caracterização clínica das craniossinostoses no Hospital de Clínicas de Porto Alegre BM Oliveira | 1 | 2018 |
| Rare diseases diagnosed through neonatal screening: Data from the Brazilian rare diseases network JC Milke, BM de Oliveira, AM Schmidt, ML dos Santos, AP Holtz, ... Molecular Genetics and Metabolism 141 (4), 108337, 2024 | | 2024 |
| Association between genetic factors and molar-incisor hypomineralisation or hypomineralised second primary molar: A systematic review RS Figueira, FWMG Muniz, LC Costa, MS de Moura, LFA Moura, ... ARCHIVES OF ORAL BIOLOGY 152, 2023 | | 2023 |
| LANDSCAPE OF INBORN ERRORS OF METABOLISM IN BRAZIL: DATA FROM THE BRAZILIAN RARE DISEASES NETWORK B de Oliveira, IVD Schwartz, JC Milke, ML dos Santos, VM Scheibe, ... Molecular Genetics and Metabolism 138 (3), 107479, 2023 | | 2023 |
| Availability of Genetic Tests in Public Health Services in Brazil: Data from the Brazilian Rare Diseases Network BM de Oliveira, MB Neiva, I Carvalho, IVD Schwartz, D Alves, TM Felix, ... Public Health Genomics 26 (1), 145-158, 2023 | | 2023 |
| Higher maternal age is associated with higher occurrence of cleft lip/palate in neonates under intensive care LS Maurique, FWMG Muniz, NPV Silveira, M Camassola, BM Oliveira Brazilian Journal of Oral Sciences 22, e239246, 2023 | | 2023 |
| Brazilian Food Reference Guide for Phenylalanine Content: A Study Based on the Perception of PKU Patients and Health Providers BB Santos, BM Oliveira, VCL Monteiro, S Poloni, T Tonon, IVD Schwartz Journal of Inborn Errors of Metabolism and Screening 10, e20220002, 2022 | | 2022 |
| The importance of Dentistry in assisting individuals with birth defects FD Santa Maria, BM de Oliveira, L Schuler-Faccini Revista da Faculdade de Odontologia de Porto Alegre 62 (1), 151-161, 2021 | | 2021 |
| Investigation of a complex phenotype involving craniosynostosis and cataracts leads to identification of a novel mutation related to galactosemia type II LS Medeiros, BM Oliveira, TO Silva, CFM Souza, FO Poswar, LF Refosco, ... Clinical and biomedical research. Porto Alegre, 2021 | | 2021 |
| Distribuição regional de procedimento de aconselhamento genético pelo Sistema Único de Saúde no Brasil: uma análise retrospectiva VM Scheibe, AM Schmidt, JC Milke, ML Santos, LL Makariewicz, M Artifon, ... Clinical and biomedical research. Porto Alegre, 2021 | | 2021 |
Ida SchwartzProfessor, Federal University of Rio Grande do SulVerified email at hcpa.edu.br
