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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
11-Apr-2017Acute liver failure related to inherited metabolic diseases in young childrenDias-Costa, F; Moinho, R; Ferreira, S; Garcia, P; Diogo, L; Gonçalves, I; Pinto, CarticleopenAccess
1-Mar-2017Galactose Epimerase Deficiency: Expanding the PhenotypeDias-Costa, F; Ferdinandusse, S; Pinto, C; Dias, A; Keldermans, L; Quelhas, D; Matthijs, G; Mooijer, PA; Diogo, L; Jaeken, J; Garcia, ParticleopenAccess
Nov-2016Identification of a novel deletion in SURF1 gene: Heterogeneity in Leigh syndrome with COX deficiencyRibeiro, C; Macário, MC; Viegas, AT; Pratas, J; Santos, MJ; Simões, M; Mendes, C; Bacalhau, M; Garcia, P; Diogo, L; Grazina, MarticleopenAccess
Sep-2016Phenotyping GABA transaminase deficiency: a case description and literature reviewLouro, P; Ramos, L; Robalo, C; Cancelinha, C; Dinis, A; Veiga, R; Pina, R; Rebelo, O; Pop, A; Diogo, L; Salomons, GS; Garcia, ParticleopenAccess

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