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Items da Coleção (Ordenados por Data de depósito em ordem descendente): 1 até 20 de 41
DataTítuloAutor(es)TipoAcesso
2014Regarding the article "Adults with Down syndrome: characterization of a Portuguese sample"Saraiva, JMarticleopenAccess
Jan-2017Congenital Milium of the NippleFerreira, MG; Salgado, MarticleopenAccess
2015Köhler disease: an infrequent or underdiagnosed cause of child's limping?Santos, L; Estanqueiro, P; Matos, G; Salgado, MarticleopenAccess
2015[The Importance of Early Referral in Pediatric Acute Liver Failure]Jerónimo, M; Moinho, R; Pinto, C; Carvalho, L; Gonçalves, I; Furtado, E; Farela Neves, JarticleopenAccess
2015Neonatal Morbidity in Term Newborns Born by Elective Cesarean SectionResende, C; Santos, L; Santos-Silva, IarticleopenAccess
2015Copy number variants prioritization after array-CGH analysis - a cohort of 1000 patientsCarreira, IM; Ferreira, SI; Matoso, E; Pires, LM; Ferrão, J; Jardim, A; Mascarenhas, A; Pinto, M; Lavoura, N; Pais, C; Paiva, P; Simões, L; Caramelo, F; Ramos, L; Venâncio, M; Ramos, F; Beleza, A; Sá, J; Saraiva, J; Barbosa de Melo, JarticleopenAccess
Set-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
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
11-Abr-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
2014Memory functioning in children with epilepsy: frontal lobe epilepsy, childhood absence epilepsy, and benign epilepsy with centrotemporal spikesLopes, AF; Monteiro, JP; Fonseca, MJ; Robalo, C; Simões, MRarticleopenAccess
Nov-2014Pro-inflammatory triggers in childhood obesity: correlation between leptin, adiponectin and high-sensitivity C-reactive protein in a group of obese Portuguese childrenPires, A; Martins, P; Pereira, AM; Marinho, J; Vaz Silva, P; Marques, M; Castela, E; Sena, C; Seiça, RarticleopenAccess
2014Interstitial 287 kb deletion of 4p16.3 including FGFRL1 gene associated with language impairment and overgrowthMatoso, E; Ramos, F; Ferrão, J; Pires, LM; Mascarenhas, A; Melo, JB; Carreira, IMarticleopenAccess
Mai-2016Symmetric Asymptomatic Plantar Nodules in an InfantGrilo, E; Nascimento, J; Estanqueiro, P; Salgado, MarticleopenAccess
4-Jul-2016Genotype-phenotype correlation in a cohort of Portuguese patients comprising the entire spectrum of VWD types: impact of NGSFidalgo, T; Salvado, R; Corrales, I; Pinto, SC; Borràs, N; Oliveira, A; Martinho, P; Ferreira, G; Almeida, H; Oliveira, C; Marques, D; Gonçalves, E; Diniz, MJ; Antunes, M; Tavares, A; Caetano, G; Kjöllerström, P; Maia, R; Sevivas, T; Vidal, F; Ribeiro, LarticleopenAccess
25-Out-2016Congenital Milium of the NippleFerreira, MG; Salgado, MBarticleopenAccess
Set-2014Bowel-associated dermatosis-arthritis syndrome in an adolescent with short bowel syndromePereira, E; Estanqueiro, P; Almeida, S; Ferreira, R; Tellechea, O; Salgado, 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
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
Items da Coleção (Ordenados por Data de depósito em ordem descendente): 1 até 20 de 41