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Items da Coleção (Ordenados por Data de depósito em ordem descendente): 1 até 20 de 30
DataTítuloAutor(es)TipoAcesso
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
Out-2014Oculo-auriculo-vertebral spectrum: a review of the literature and genetic updateBeleza-Meireles, AF; Clayton-Smith, J; Saraiva, JM; Tassabehji, MarticleopenAccess
2007Congenital adrenal hyperplasia: focus on the molecular basis of 21-hydroxylase deficiencyGonçalves, J; Friães, A; Moura, LarticleopenAccess
2016Pediatric ocular rosacea, a misdiagnosed disease with high morbidity: Proposed diagnostic criteriaArriaga, C; Domingues, M; Castela, G; Salgado, MarticleopenAccess
2015Renovascular hypertension: a case with atypical neurological signsJerónimo, M; Dionísio, T; Gomes, C; Neves, JFarticleopenAccess
2015Necrose Gorda, uma Complicação de Hipotermia InduzidaMonteiro, R; Paulos, L; Margatho, M; Pereira, M; Dinis, A; Winckler, LarticleopenAccess
2014Hipertiroidismo neonatal transitórioJerónimo, M; Moinho, R; Nunes-Vicente, I; Oliveira, A; Dias, A; Mimoso, G; Dinis, I; Mirante, A; Faria, DarticleopenAccess
2014A rare manifestation of neonatal alloimmune thrombocytopaeniaJerónimo, M; Azenha, C; Mesquita, J; Pereira, DFarticleopenAccess
2015Perinatal Neuroblastoma – A Challenge for the NeonatologistOliveira, A; Jerónimo, M; Fonseca, M; Heitor, F; Mimoso, GarticleopenAccess
2014Phenotypic expression in hypertrophic cardiomyopathy and late gadolinium enhancement on cardiac magnetic resonanceCaetano, F; Botelho, A; Trigo, J; Silva, J; Almeida, I; Venâncio, M; Pais, J; Sanches, C; Leitão-Marques, AarticleopenAccess
2014A tomada de decisão ético-deontológica dos enfermeirosMorgado, T; Seabra, S; Ferreira, F; Tinoco-Mendes, A; Mateus, F; Pereira, F; Morais, MEarticleopenAccess
Items da Coleção (Ordenados por Data de depósito em ordem descendente): 1 até 20 de 30