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Issue DateTitleAuthor(s)TypeAccess Type
Jan-2014Intellectual disability, coarse face, relative macrocephaly, and cerebellar hypotrophy in two sistersSousa, SB; Ramos, F; Garcia, P; Pais, RP; Paiva, C; Beales, PL; Moore, GE; Saraiva, JM; Hennekam, RCarticleopenAccess
2014Regarding the article "Adults with Down syndrome: characterization of a Portuguese sample"Saraiva, JMarticleopenAccess
Oct-2014Oculo-auriculo-vertebral spectrum: a review of the literature and genetic updateBeleza-Meireles, AF; Clayton-Smith, J; Saraiva, JM; Tassabehji, MarticleopenAccess
6-Nov-2014Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndromeThomas, AC; Williams, H; Setó-Salvia, N; Bacchelli, C; Jenkins, D; O'Sullivan, M; Mengrelis, K; Ishida, M; Ocaka, L; Chanudet, E; James, C; Lescai, F; Anderson, G; Morrogh, D; Ryten, M; Duncan, AJ; Pai, YJ; Saraiva, JM; Ramos, F; Farren, B; Saunders, D; Vernay, B; Gissen, P; Straatmaan-Iwanowska, A; Baas, F; Wood, NW; Hersheson, J; Houlden, H; Hurst, J; Scott, R; Bitner-Glindzicz, M; Moore, GE; Sousa, SB; Stanier, ParticleopenAccess
2014Regarding the article "Adults with Down syndrome: characterization of a Portuguese sample"Saraiva, JMarticleopenAccess

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