Collection's Items (Sorted by Submit Date in Descending order): 1 to 20 of 102
| Issue Date | Title | Author(s) | Type | Access Type |
| 2020 | Interictal spike quantification in continuous spike-wave of sleep (CSWS): Clinical usefulness of a wearable EEG device | Carvalho, D; Mendes, T; Dias, AI; Leal, A | article |  |
| 2006 | Craniossinostoses Importância Clínica e Implicações Funcionais | Cristóvão, C; Emílio, A; Soares, MR; Dias, AI; Matos, M; Távora, L | article | |
| Dec-2019 | Genetic modulators of fetal hemoglobin expression and ischemic stroke occurrence in African descendant children with sickle cell anemia | Nicolau, M; Vargas, S; Silva, M; Coelho, A; Ferreira, E; Mendonça, J; Vieira, L; Kjöllerström, P; Maia, R; Silva, R; Dias, A; Ferreira, T; Morais, A; Soares, IM; Lavinha, J; Faustino, P | article | |
| 2018 | De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures | Ito, Y; Carss, KJ; Duarte, ST; Hartley, T; Keren, B; Kurian, MA; Marey, I; Charles, P; Mendonça, C; Nava, C; Pfundt, R; Sanchis-Juan, A; van Bokhoven, H; van Essen, A; van Ravenswaaij-Arts, C; Boycott, KM; Kernohan, KD; Dyack, S; Raymond, FL | article | |
| 2018 | Loss of Hierarchical Imprinting Regulation at the Prader-Willi/Angelman Syndrome Locus in Human iPSCs | Pólvora-Brandão, D; Joaquim, M; Godinho, I; Aprile, D; Álvaro, AR; Onofre, I; Raposo, AC; Pereira de Almeida, L; Duarte, ST; da Rocha, ST | article | |
| 2018 | Meningitis in a Small Infant. When Something is Not What it Seems | Padeira, G; Conceição, C; Vieira, JP; Brito, MJ | article | |
| 2018 | Mental Nerve Neuropathy: A Rare Manifestation in Sickle Cell Disease | Alcafache, M; Santos, S; Sassetti, M; Batalha, S; Maia, R; Lopes da Silva, R; Kjöllerström, P | article | |
| 2017 | MEGDEL Syndrome: Expanding the Phenotype and New Mutations | Sequeira, S; Rodrigues, M; Jacinto, S; Wevers, RA; Wortmann, SB | article | |
| 2015 | Paralisia do Plexo Braquial – Uma Manifestação Rara de Infeção Osteo-Articular | Moutinho, A; Valério, M; Marques, I; Carrusca, C; Vieira, JP; Tavares, D; Cassiano Neves, M | article | |
| Oct-2018 | AP4S1 Splice-Site Mutation in a Case of Spastic Paraplegia Type 52 with Polymicrogyria | Carmona, S; Marecos, C; Amorim, M; Ferreira, AC; Conceição, C; Brás, J; Duarte, ST; Guerreiro, R | article | |
| Jan-2018 | Anatomical and Physiological Basis of Continuous Spike-Wave of Sleep Syndrome After Early Thalamic Lesions | Leal, A; Calado, E; Vieira, JP; Mendonça, C; Ferreira, JC; Ferreira, H; Carvalho, D; Furtado, F; Gomes, R; Monteiro, JP | article | |
| Jan-2018 | Anatomical and Physiological Basis of Continuous Spike-Wave of Sleep Syndrome after Early Thalamic Lesions | Leal, A; Calado, E; Vieira, JP; Mendonça, C; Ferreira, JC; Ferreira, H; Carvalho, D; Furtado, F; Gomes, R; Monteiro, JP | article | |
| 1-Mar-2017 | Epileptic Spasms in Congenital Disorders of Glycosylation | Pereira, AG; Bahi-Buisson, N; Barnerias, C; Boddaert, N; Nabbout, R; de Lonlay, P; Kaminska, A; Eisermann, M | article | |
| Jun-2017 | Hyperprolinemia as a Clue in the Diagnosis of a Patient with Psychiatric Manifestations | Duarte, M; Afonso, J; Moreira, A; Antunes, D; Ferreira, C; Correia, H; Marques, M; Sequeira, S | article | |
| Oct-2017 | Postinfectious Anti-Myelin Oligodendrocyte Glycoprotein Antibody Positive Optic Neuritis and Myelitis | Vieira, JP; Sequeira, J; Brito, MJ | article | |
| 2016 | Manifestações Neurológicas nas Imunodeficiências Primárias | Oliveira, M; Cordeiro, AI; Conde, M; Lopes Silva, R; Neves, C; Farela Neves, J | article | |
| Aug-2016 | Challenges in Diagnosis and Treatment of Pediatric Multiple Sclerosis | Lopes Silva, R | article | |
| 2016 | Diplopia, Convergent Strabismus, and Eye Abduction Palsy in a 12-Year-Old Boy with Autoimmune Thyroiditis | Marques, P; Jacinto, S; Pinto, MC; Limbert, C; Lopes, L | article | |
| Aug-2014 | Anti-N-Methyl-D-Aspartate Receptor Encephalitis with Positive Serum Antithyroid Antibodies, IgM Antibodies Against Mycoplasma Pneumoniae and Human Herpesvirus 7 PCR in the CSF | Venâncio, P; Brito, MJ; Pereira, G; Vieira, JP | article | |
| Mar-2012 | Mutations in CTC1, Encoding Conserved Telomere Maintenance Component 1, Cause Coats Plus | Anderson, B; Kasher, P; Mayer, J; Szynkiewicz, M; Jenkinson, E; Bhaskar, S; Urquhart, J; Daly, S; Dickerson, J; O'Sullivan, J; Leibundgut, E; Muter, J; Abdel-Salem, G; Babul-Hirji, R; Baxter, P; Berger, A; Bonafé, L; Brunstom-Hernandez, J; Buckard, J; Chitayat, D; Chong, W; Cordelli, D; Ferreira, P; Fluss, J; Forrest, E; Franzoni, E; Garone, C; Hammans, S; Houge, G; Hughes, I; Jacquemont, S; Jeannet, P; Jefferson, R; Kumar, R; Kutschke, G; Lundberg, S; Lourenço, C; Mehta, R; Naidu, S; Nischal, K; Nunes, L; Ounap, K; Philippart, M; Prabhakar, P; Risen, S; Schiffmann, R; Soh, C; Stephenson, J; Stewart, H; Stone, J; Tolmie, J; van der Knaap, M; Vieira, JP; Vilain, C; Wakeling, E; Wermenbol, V; Whitney, A; Lovell, S; Meyer, S; Livingston, J; Baerlocher, G; Black, G; Rice, G; Crow, Y | article | |
Collection's Items (Sorted by Submit Date in Descending order): 1 to 20 of 102
