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Journal of Community Genetics
|
September 26, 2024
Building a National Policy for Rare Disease in Brazil
Têmis Maria Félix, Bibiana Mello de Oliveira, Dafne Dain Gandelman Horovitz
Public Health Genomics
|
June 25, 2023
Availability of Genetic Tests in Public Health Services in Brazil: Data from the Brazilian Rare Diseases Network
Bibiana Mello de Oliveira, Mariane Barros Neiva, Isabelle Carvalho, et al.
Journal of Medical Internet Research
|
July 27, 2023
The Minimum Data Set for Rare Diseases: Systematic Review
Filipe Andrade Bernardi, Bibiana Mello de Oliveira, Diego Bettiol Yamada, et al.
Arquivos De Neuro-Psiquiatria
|
May 19, 2024
A needle in a haystack? The impact of a targeted epilepsy gene panel in the identification of a treatable but rapidly progressive metabolic epilepsy: CLN2 disease
Charles Marques Lourenço, Juliana Maria Ferraz Sallum, Alessandra Marques Pereira, et al.
Nutrients
|
June 13, 2025
Feeding Difficulties in Children with Hepatic Glycogen Storage Diseases Identified by a Brazilian Portuguese Validated Screening Tool
Bárbara Cristina Pezzi Sartor, Bibiana Mello de Oliveira, Katia Irie Teruya, et al.
Journal of Indian Society of Periodontology
|
March 6, 2023
Periodontal Ehlers-Danlos syndrome in early childhood: A case report of loss of deciduous teeth
Ricardo Souza Martins, Francisco Wilker Mustafa Gomes Muniz, Juliana Oliveira Gondim, et al.
Orphanet Journal of Rare Diseases
|
July 31, 2024
Potential use of other starch sources in the treatment of glycogen storage disease type Ia - an in vitro study
Vaneisse Monteiro, Karina Colonetti, Carlos Henrique Pagno, et al.
JMIR Medical Education
|
June 12, 2026
Main Recommendations for Developing Education and Awareness Strategies for Rare Diseases: Scoping Review
Diego Bettiol Yamada, Tatiana Takahasi Komoto, Vinícius Costa Lima, et al.
Orphanet Journal of Rare Diseases
|
February 25, 2022
Epidemiology of rare diseases in Brazil: protocol of the Brazilian Rare Diseases Network (RARAS-BRDN)
Têmis Maria Félix, Bibiana Mello de Oliveira, Milena Artifon, et al.
Journal of Community Genetics
|
February 6, 2025
Redefining the approach to rare diseases: the experience of "Casa dos Raros" in Brazil
Roberto Giugliani, Bibiana Mello de Oliveira, Bruna Baierle Guaraná, et al.
Page
of 2
Search research articles
Search
Showing results (1-10 of 14) with videos related to
Sort By:
Page
of 2
Journal of Community Genetics
|
September 26, 2024
Building a National Policy for Rare Disease in Brazil
Têmis Maria Félix, Bibiana Mello de Oliveira, Dafne Dain Gandelman Horovitz
Public Health Genomics
|
June 25, 2023
Availability of Genetic Tests in Public Health Services in Brazil: Data from the Brazilian Rare Diseases Network
Bibiana Mello de Oliveira, Mariane Barros Neiva, Isabelle Carvalho, et al.
Journal of Medical Internet Research
|
July 27, 2023
The Minimum Data Set for Rare Diseases: Systematic Review
Filipe Andrade Bernardi, Bibiana Mello de Oliveira, Diego Bettiol Yamada, et al.
Arquivos De Neuro-Psiquiatria
|
May 19, 2024
A needle in a haystack? The impact of a targeted epilepsy gene panel in the identification of a treatable but rapidly progressive metabolic epilepsy: CLN2 disease
Charles Marques Lourenço, Juliana Maria Ferraz Sallum, Alessandra Marques Pereira, et al.
Nutrients
|
June 13, 2025
Feeding Difficulties in Children with Hepatic Glycogen Storage Diseases Identified by a Brazilian Portuguese Validated Screening Tool
Bárbara Cristina Pezzi Sartor, Bibiana Mello de Oliveira, Katia Irie Teruya, et al.
Journal of Indian Society of Periodontology
|
March 6, 2023
Periodontal Ehlers-Danlos syndrome in early childhood: A case report of loss of deciduous teeth
Ricardo Souza Martins, Francisco Wilker Mustafa Gomes Muniz, Juliana Oliveira Gondim, et al.
Orphanet Journal of Rare Diseases
|
July 31, 2024
Potential use of other starch sources in the treatment of glycogen storage disease type Ia - an in vitro study
Vaneisse Monteiro, Karina Colonetti, Carlos Henrique Pagno, et al.
JMIR Medical Education
|
June 12, 2026
Main Recommendations for Developing Education and Awareness Strategies for Rare Diseases: Scoping Review
Diego Bettiol Yamada, Tatiana Takahasi Komoto, Vinícius Costa Lima, et al.
Orphanet Journal of Rare Diseases
|
February 25, 2022
Epidemiology of rare diseases in Brazil: protocol of the Brazilian Rare Diseases Network (RARAS-BRDN)
Têmis Maria Félix, Bibiana Mello de Oliveira, Milena Artifon, et al.
Journal of Community Genetics
|
February 6, 2025
Redefining the approach to rare diseases: the experience of "Casa dos Raros" in Brazil
Roberto Giugliani, Bibiana Mello de Oliveira, Bruna Baierle Guaraná, et al.
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of 2