Collection's Items (Sorted by Submit Date in Descending order): 1 to 20 of 41
| Issue Date | Title | Author(s) | Type | Access Type |
| 2014 | Regarding the article "Adults with Down syndrome: characterization of a Portuguese sample" | Saraiva, JM | article |  |
| Jan-2017 | Congenital Milium of the Nipple | Ferreira, MG; Salgado, M | article | |
| 2015 | Köhler disease: an infrequent or underdiagnosed cause of child's limping? | Santos, L; Estanqueiro, P; Matos, G; Salgado, M | article | |
| 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, J | article | |
| 2015 | Neonatal Morbidity in Term Newborns Born by Elective Cesarean Section | Resende, C; Santos, L; Santos-Silva, I | 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 | |
| Sep-2016 | Phenotyping GABA transaminase deficiency: a case description and literature review | Louro, P; Ramos, L; Robalo, C; Cancelinha, C; Dinis, A; Veiga, R; Pina, R; Rebelo, O; Pop, A; Diogo, L; Salomons, GS; Garcia, P | 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 | |
| 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 | |
| 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 | |
| 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 | |
| Nov-2014 | Pro-inflammatory triggers in childhood obesity: correlation between leptin, adiponectin and high-sensitivity C-reactive protein in a group of obese Portuguese children | Pires, A; Martins, P; Pereira, AM; Marinho, J; Vaz Silva, P; Marques, M; Castela, E; Sena, C; Seiça, R | 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 | |
| May-2016 | Symmetric Asymptomatic Plantar Nodules in an Infant | Grilo, E; Nascimento, J; Estanqueiro, P; Salgado, M | 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 | |
| 25-Oct-2016 | Congenital Milium of the Nipple | Ferreira, MG; Salgado, MB | 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 | |
| 6-Nov-2014 | Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome | Thomas, 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, P | 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 | Regarding the article "Adults with Down syndrome: characterization of a Portuguese sample" | Saraiva, JM | article | |
Collection's Items (Sorted by Submit Date in Descending order): 1 to 20 of 41
