Showing results (1-10 of 21) with videos related to

Sort By:
Pageof 3
Genes|December 1, 2019
Artificial Intelligence (AI) in Rare Diseases: Is the Future Brighter?Sandra Brasil, Carlota Pascoal, Rita Francisco, et al.
Human Mutation|May 28, 2015
The Effects of PMM2-CDG-Causing Mutations on the Folding, Activity, and Stability of the PMM2 ProteinPatricia Yuste-Checa, Alejandra Gámez, Sandra Brasil, et al.
Orphanet Journal of Rare Diseases|October 20, 2023
Congenital disorders of glycosylation (CDG): state of the art in 2022Rita Francisco, Sandra Brasil, Joana Poejo, et al.
Orphanet Journal of Rare Diseases|March 25, 2022
The road to successful people-centric research in rare diseases: the web-based case study of the Immunology and Congenital Disorders of Glycosylation questionnaire (ImmunoCDGQ)Rita Francisco, Sandra Brasil, Carlota Pascoal, et al.
Human Mutation|May 5, 2011
Pseudoexon exclusion by antisense therapy in 6-pyruvoyl-tetrahydropterin synthase deficiencySandra Brasil, Hiu Man Viecelli, David Meili, et al.
Frontiers in Molecular Biosciences|May 24, 2021
Artificial Intelligence in Epigenetic Studies: Shedding Light on Rare DiseasesSandra Brasil, Cátia José Neves, Tatiana Rijoff, et al.
Human Mutation|October 25, 2016
Pharmacological Chaperoning: A Potential Treatment for PMM2-CDGPatricia Yuste-Checa, Sandra Brasil, Alejandra Gámez, et al.
Stem Cell Research|September 20, 2017
Generation and characterization of a human iPSC line from a patient with propionic acidemia due to defects in the PCCA geneEsmeralda Alonso-Barroso, Sandra Brasil, Álvaro Briso-Montiano, et al.
Human Molecular Genetics|May 16, 2013
Pharmacological chaperones as a potential therapeutic option in methylmalonic aciduria cblB typeAna Jorge-Finnigan, Sandra Brasil, Jarl Underhaug, et al.
Orphanet Journal of Rare Diseases|November 30, 2018
Patient and observer reported outcome measures to evaluate health-related quality of life in inherited metabolic diseases: a scoping reviewCarlota Pascoal, Sandra Brasil, Rita Francisco, et al.
Pageof 3