Browsing by Subject Genetic Disease

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Showing results 1 to 9 of 9
Issue DateTitleAuthor(s)TypeAccess Type
Dec-1997Distinct Haplotype in Non-Ashkenazi Gaucher Patients with N370S MutationAmaral, Olga; Marcao, Ana; Pinto, Eugénia; Zimran, Ari; Sá Miranda, M.C.articlerestrictedAccess
Nov-2011Genetic variation in CHIT 1Duarte, Ana; Ribeiro, Diogo; Amaral, OlgaconferenceObjectrestrictedAccess
Sep-2011New splicing mutation in the cystatin B geneAmaral, Olga; Freitas, Joel; Pinto, Eugénia; Duarte, Ana Joana; Ribeiro, Isaura; Ribeiro, Diogo; Chaves, JoãoconferenceObjectrestrictedAccess
Jun-2001Niemann-Pick type C disease: NPC1 mutations associated with severe and mild cellular cholesterol trafficking alterationsRibeiro, Isaura; Marcao, Ana; Amaral, Olga; Sá Miranda, M.C,; Vanier, M.T,; Millat, GillesarticlerestrictedAccess
Mar-2012Os nossos micromundosAmaral, OlgaotherembargoedAccess (2 Years)
8-Oct-2012Public Health GenomicsLavinha, JoãolectureopenAccess
26-Oct-2012Sickle cell disease severity scoring: a yet unsolved problemCoelho, Andreia; Dias, Alexandra; Morais, Anabela; Nunes, Baltazar; Faustino, Paula; Lavinha, JoãoarticlerestrictedAccess
1996Type 1 Gaucher Disease: Identification of and Prevalence of Glucocerebrosidase Mutations in the PortugueseAmaral, Olga; Pinto, Eugénia; Fortuna, Margarida; La cerda, Lucia; Sá Miranda, M.C.articlerestrictedAccess
Aug-2011Unverricht–lundborg disease: report of a new mutationFreitas, Joel; Pinto, Eugénia; Duarte, A.J.; Amaral, Olga; Chaves, Joao; Lopes-Lima, J.conferenceObjectopenAccess