E-LIB Suche - Ergebnisse für: Brasil, Sandra

1

Congenital disorders of glycosylation (CDG): state of the a..:

Francisco, Rita ; Brasil, Sandra ; Poejo, Joana...
Orphanet Journal of Rare Diseases. 18 (2023) 1 - p. , 2023

Link: https://doi.org/10.1186/..

2

The road to successful people-centric research in rare dise..:

Francisco, Rita ; Brasil, Sandra ; Pascoal, Carlota...
Orphanet Journal of Rare Diseases. 17 (2022) 1 - p. , 2022

Link: https://doi.org/10.1186/..

3

A Community-Led Approach as a Guide to Overcome Challenges ..:

Francisco, Rita ; Brasil, Sandra ; Pascoal, Carlota...
International Journal of Environmental Research and Public Health. 19 (2022) 11 - p. 6829 , 2022

Link: https://doi.org/10.3390/..

4

Systematic Review: Drug Repositioning for Congenital Disord..:

Brasil, Sandra ; Allocca, Mariateresa ; Magrinho, Salvador C. M....
International Journal of Molecular Sciences. 23 (2022) 15 - p. 8725 , 2022

Link: https://doi.org/10.3390/..

5

Epidemiology of congenital disorders of glycosylation (CDG)..:

Piedade, Ana ; Francisco, Rita ; Jaeken, Jaak...
Journal of Rare Diseases. 1 (2022) 1 - p. , 2022

Link: https://doi.org/10.1007/..

6

Stakeholders' views on drug development: the congenital dis..:

Monticelli, Maria ; Francisco, Rita ; Brasil, Sandra...
Orphanet Journal of Rare Diseases. 17 (2022) 1 - p. , 2022

Link: https://doi.org/10.1186/..

7

A Participatory Framework for Plain Language Clinical Manag..:

Francisco, Rita ; Alves, Susana ; Gomes, Catarina...
International Journal of Environmental Research and Public Health. 19 (2022) 20 - p. 13506 , 2022

Link: https://doi.org/10.3390/..

8

Artificial Intelligence in Epigenetic Studies: Shedding Lig..:

Brasil, Sandra ; Neves, Cátia José ; Rijoff, Tatiana...
Frontiers in Molecular Biosciences. 8 (2021) - p. , 2021

Link: https://doi.org/10.3389/..

9

New Insights into Immunological Involvement in Congenital D..:

Francisco, Rita ; Pascoal, Carlota ; Marques-da-Silva, Dorinda...
Journal of Clinical Medicine. 9 (2020) 7 - p. 2092 , 2020

Link: https://doi.org/10.3390/..

10

International consensus guidelines for phosphoglucomutase 1..:

Altassan, Ruqaiah ; Radenkovic, Silvia ; Edmondson, Andrew C....
Journal of Inherited Metabolic Disease. 44 (2020) 1 - p. 148-163 , 2020

Link: https://doi.org/10.1002/..

11

Artificial Intelligence (AI) in Rare Diseases: Is the Futur..:

Brasil, Sandra ; Pascoal, Carlota ; Francisco, Rita...
Genes. 10 (2019) 12 - p. 978 , 2019

Link: https://doi.org/10.3390/..

12

"SER PROFESSOR": quem sou eu e porquê?:

Aleluia, Iêda ; Vilas Boas, Lígia ; Brasil, Sandra.
International Journal of Health Education. 3 (2019) 1 - p. 53-60 , 2019

Link: https://doi.org/10.17267..

13

International clinical guidelines for the management of pho..:

Altassan, Ruqaiah ; Péanne, Romain ; Jaeken, Jaak...
Journal of Inherited Metabolic Disease. 42 (2019) 1 - p. 5-28 , 2019

Link: https://doi.org/10.1002/..

14

Patient and observer reported outcome measures to evaluate ..:

Pascoal, Carlota ; Brasil, Sandra ; Francisco, Rita...
Orphanet Journal of Rare Diseases. 13 (2018) 1 - p. , 2018

Link: https://doi.org/10.1186/..

15

Improving the diagnosis of cobalamin and related defects by..:

Brasil, Sandra ; Leal, Fátima ; Vega, Ana...
Orphanet Journal of Rare Diseases. 13 (2018) 1 - p. , 2018

Link: https://doi.org/10.1186/..