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Repositório Científico do Instituto Nacional de Saúde >
Browsing by Author Amaral, O.
Showing results 6 to 10 of 10
| Issue Date | Title | Author(s) | | Feb-2012 | Lack of Cystatin B Protein as a Cause Of Myoclonic Epilepsy | Amaral, O.; Duarte, A.; Pinto, E.; Freitas, J.; Chaves, J. |
| 27-Apr-2012 | Molecular diagnosis of Gaucher disease in Tunisia | Cherif, W.; Turkia, H.B.; Rhouma, F.B.; Riahi, I.; Chemli, J.; Amaral, O.; Sa Miranda, M.C.; Caillaud, C.; Kaabachi, N.; Tebib, N.; Abdelhak, S.; Dridi, M.F.B. |
| Nov-2005 | Mutations c.459+1G>A and p.P426L in the ARSA gene: prevalence in metachromatic leukodystrophy patients from European countries | Lugowska, A.; Amaral, O.; Berger, J.; Berna, L.; Bosshard, N.; Chabas, A.; Fensom, A.; Gieselmann, V.; Gorovenko, N.; Lissens, W.; Mansson, J.; Marcao, A.; Michelakakis, H.; Bernheimer, H.; Ol'khovych, N.; Regis, S.; Sinke, R.; Tylki-Szymanska, A.; Czartoryska, B. |
| 2007 | Mutation spectrum of Gaucher disease in Tunisia: high frequency of N370S/Rec NciI compound heterozygous | Cherif, W.; Ben Turkia, H.; Tebib, N.; Amaral, O.; Ben Rhouma, F.; Abdelmoula MS, M.S.; Azzouz, H.; Caillaud, C.; Sà Miranda, M.C.; Abdelhak, S.; Ben Dridi, M.F. |
| Mar-2011 | Rapid and cost-effective method for the detection of the c.533G>A mutation in the HEXA gene | Ribeiro, D.; Duarte, A.J.; Amaral, O. |
Showing results 6 to 10 of 10
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