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| Issue Date | Title | Author(s) | Type | Access Type |
| 11-Apr-2017 | Acute liver failure related to inherited metabolic diseases in young children | Dias-Costa, F; Moinho, R; Ferreira, S; Garcia, P; Diogo, L; Gonçalves, I; Pinto, C | article |  |
| Sep-2014 | Bowel-associated dermatosis-arthritis syndrome in an adolescent with short bowel syndrome | Pereira, E; Estanqueiro, P; Almeida, S; Ferreira, R; Tellechea, O; Salgado, M | article | |
| 2013 | Cianose no pequeno lactente – desafio diagnóstico | Amaral, ME; Silva, PV; Marinho, J; Francisco, A; Andrade, H; Martins, P; Santos, I; Rodrigues, D; Sousa, G; Pires, A; Marinho, A; Castela, E | conferenceObject | |
| 2007 | Congenital adrenal hyperplasia: focus on the molecular basis of 21-hydroxylase deficiency | Gonçalves, J; Friães, A; Moura, L | article | |
| 25-Oct-2016 | Congenital Milium of the Nipple | Ferreira, MG; Salgado, MB | article | |
| Jan-2017 | Congenital Milium of the Nipple | Ferreira, MG; Salgado, M | article | |
| 2015 | Copy number variants prioritization after array-CGH analysis - a cohort of 1000 patients | Carreira, 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, J | article | |
| 2010 | Dilated fetal bowel as indication for prenatal diagnosis of cystic fibrosis | Soares, R; Neto, P; Pereira, N; Cunha, C; Pinto, C; Fonseca, M; Ramos, L; Galhano, E | article | |
| 2005 | Epilepsia e gravidez: que conduta? A propósito de um caso clínico | Rodrigues, CT; Branco, M; Ferreira, I; Estanqueiro, P; Vicente, T; Santos-Silva, I; Couceiro, A; Ramos, C | article | |
| 2008 | A evolução do refluxo vesico-ureteral com diagnóstico perinatal | Leitão, H; Correia, AJ; Gomes, C; Simões, O; Rolo, V; Mimoso, G; Ramos, C | article | |
| 1-Mar-2017 | Galactose Epimerase Deficiency: Expanding the Phenotype | Dias-Costa, F; Ferdinandusse, S; Pinto, C; Dias, A; Keldermans, L; Quelhas, D; Matthijs, G; Mooijer, PA; Diogo, L; Jaeken, J; Garcia, P | article | |
| 4-Jul-2016 | Genotype-phenotype correlation in a cohort of Portuguese patients comprising the entire spectrum of VWD types: impact of NGS | Fidalgo, 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, L | article | |
| 2014 | Hipertiroidismo neonatal transitório | Jerónimo, M; Moinho, R; Nunes-Vicente, I; Oliveira, A; Dias, A; Mimoso, G; Dinis, I; Mirante, A; Faria, D | article | |
| 2011 | Hodgkin's lymphoma and late onset egg allergy: is there a causal relationship? | Calado, G; Machado, D; Ribeiro, C; Loureiro, G; Tavares, B; Pereira, C; Cunha, R; Chieira, C | article | |
| Nov-2016 | Identification of a novel deletion in SURF1 gene: Heterogeneity in Leigh syndrome with COX deficiency | Ribeiro, C; Macário, MC; Viegas, AT; Pratas, J; Santos, MJ; Simões, M; Mendes, C; Bacalhau, M; Garcia, P; Diogo, L; Grazina, M | article | |
| Jan-2014 | Intellectual disability, coarse face, relative macrocephaly, and cerebellar hypotrophy in two sisters | Sousa, SB; Ramos, F; Garcia, P; Pais, RP; Paiva, C; Beales, PL; Moore, GE; Saraiva, JM; Hennekam, RC | article | |
| 2014 | Interstitial 287 kb deletion of 4p16.3 including FGFRL1 gene associated with language impairment and overgrowth | Matoso, E; Ramos, F; Ferrão, J; Pires, LM; Mascarenhas, A; Melo, JB; Carreira, IM | article | |
| 2015 | Köhler disease: an infrequent or underdiagnosed cause of child's limping? | Santos, L; Estanqueiro, P; Matos, G; Salgado, M | article | |
| 2011 | Lessons from monochorionic twin delivery | Ferreira, SA; Januário, GM; Pereira, DF; Santos-Silva, I; Negrão, F | article | |
| 2014 | Memory functioning in children with epilepsy: frontal lobe epilepsy, childhood absence epilepsy, and benign epilepsy with centrotemporal spikes | Lopes, AF; Monteiro, JP; Fonseca, MJ; Robalo, C; Simões, MR | article | |
