Browsing by Author Almeida, L.S.
Showing results 1 to 6 of 6
| Issue Date | Title | Author(s) | Type | Access Type |
| 2011 | Characterization of novel SLC6A8 variants with the use of splice-site analysis tools and implementation of a newly developed LOVD database | Betsalel, O.T.; Rosenberg, E.H.; Almeida, L.S.; Kleefstra, T.; Schwartz, C.E.; Valayannopoulos, V.; Abdul-Rahman, O.; Poplawski, N.; Vilarinho, L.; Wolf, P.; den Dunnen, J.T.; Jakobs, C.; Salomons, G.S. | article |  |
| Jun-2012 | "Double trouble” or digenic disorder in Complex I deficiency | Almeida, L.S.; Ferreira, M.; Nogueira, C.; Furtado, F.; Evangelista, T.; Santorelli, F.M.; Vilarinho, L. | conferenceObject | |
| Sep-2013 | Novel mutation in the mitochondrial transfer RNACys gene in a child | Almeida, L.S.; Martins, E.; Santorelli, F.M.; Vilarinho, L. | conferenceObject | |
| 2012 | Nuclear-Mitochondrial Intergenomic Communication Disorders | Almeida, L.S.; Nogueira, C.; Vilarinho, L. | bookPart | |
| 2011 | Relative frequency of known causes of multiple mtDNA deletions: two novel POLG mutations | Ferreira, M.; Evangelista, T.; Almeida, L.S.; Martins, J.; Macario, M.C.; Martins, E.; Moleirinho, A.; Azevedo, L.; Vilarinho, L.; Santorelli, F.M. | article |  |
| 15-Sep-2013 | Trimethylaminuria (fish odor syndrome): genotype characterization among Portuguese patients | Ferreira, F.; Esteves, S.; Almeida, L.S.; Gaspar, A.; da Costa CD, Janeiro P.; Bandeira, A.; Martins, E.S.; Teles, E.L.; Garcia, P.; Azevedo, L.; Vilarinho, L. | article |  |
