Browsing by Author Amaral, O.

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Showing results 6 to 11 of 11 < previous 
Issue DateTitleAuthor(s)TypeAccess Type
Feb-2012Lack of Cystatin B Protein as a Cause Of Myoclonic EpilepsyAmaral, O.; Duarte, A.; Pinto, E.; Freitas, J.; Chaves, J.conferenceObjectrestrictedAccess
27-Apr-2012Molecular diagnosis of Gaucher disease in TunisiaCherif, W.; Ben Turkia, H.; Ben Rhouma, F.; Riahi, I.; Chemli, J.; Amaral, O.; Sá Miranda, M.C.; Caillaud, C.; Kaabachi, N.; Tebib, N.; Ben Dridi, M.F.articlerestrictedAccess
2007Mutation spectrum of Gaucher disease in Tunisia: high frequency of N370S/Rec NciI compound heterozygousCherif, 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.articlerestrictedAccess
Nov-2005Mutations c.459+1G>A and p.P426L in the ARSA gene: prevalence in metachromatic leukodystrophy patients from European countriesLugowska, 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.articlerestrictedAccess
Mar-2011Rapid and cost-effective method for the detection of the c.533G>A mutation in the HEXA geneRibeiro, D.; Duarte, A.J.; Amaral, O.articlerestrictedAccess
Mar-2014Unverricht-Lundborg disease: development of splicing therapeutic approaches for a patient with an homozygous mutation in the cystatin B geneMatos, L.; Duarte, A.J.; Ribeiro, D.; Jordan, P.; Prata, M.J.; Chaves, J.; Desviat, L.R.; Pérez, B.; Amaral, O.; Alves, S.conferenceObjectclosedAccess