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Items da Coleção (Ordenados por Data de depósito em ordem descendente): 1 até 20 de 94
DataTítuloAutor(es)TipoAcesso
Out-2018AP4S1 Splice-Site Mutation in a Case of Spastic Paraplegia Type 52 with PolymicrogyriaCarmona, S; Marecos, C; Amorim, M; Ferreira, AC; Conceição, C; Brás, J; Duarte, ST; Guerreiro, RarticleopenAccess
Jan-2018Anatomical and Physiological Basis of Continuous Spike-Wave of Sleep Syndrome After Early Thalamic LesionsLeal, A; Calado, E; Vieira, JP; Mendonça, C; Ferreira, JC; Ferreira, H; Carvalho, D; Furtado, F; Gomes, R; Monteiro, JParticleopenAccess
Jan-2018Anatomical and Physiological Basis of Continuous Spike-Wave of Sleep Syndrome after Early Thalamic LesionsLeal, A; Calado, E; Vieira, JP; Mendonça, C; Ferreira, JC; Ferreira, H; Carvalho, D; Furtado, F; Gomes, R; Monteiro, JParticleopenAccess
1-Mar-2017Epileptic Spasms in Congenital Disorders of GlycosylationPereira, AG; Bahi-Buisson, N; Barnerias, C; Boddaert, N; Nabbout, R; de Lonlay, P; Kaminska, A; Eisermann, MarticleopenAccess
Jun-2017Hyperprolinemia as a Clue in the Diagnosis of a Patient with Psychiatric ManifestationsDuarte, M; Afonso, J; Moreira, A; Antunes, D; Ferreira, C; Correia, H; Marques, M; Sequeira, SarticleopenAccess
Out-2017Postinfectious Anti-Myelin Oligodendrocyte Glycoprotein Antibody Positive Optic Neuritis and MyelitisVieira, JP; Sequeira, J; Brito, MJarticleopenAccess
12-Fev-2017Hyperprolinemia as a Clue in the Diagnosis of a Patient with Psychiatric ManifestationsDuarte, M; Afonso, J; Moreira, A; Antunes, D; Ferreira, C; Correia, H; Marques, M; Sequeira, SarticleopenAccess
2016Manifestações Neurológicas nas Imunodeficiências PrimáriasOliveira, M; Cordeiro, AI; Conde, M; Lopes Silva, R; Neves, C; Farela Neves, JarticleopenAccess
Ago-2016Challenges in Diagnosis and Treatment of Pediatric Multiple SclerosisLopes Silva, RarticleopenAccess
2016Diplopia, Convergent Strabismus, and Eye Abduction Palsy in a 12-Year-Old Boy with Autoimmune ThyroiditisMarques, P; Jacinto, S; Pinto, MC; Limbert, C; Lopes, LarticleopenAccess
Ago-2014Anti-N-Methyl-D-Aspartate Receptor Encephalitis with Positive Serum Antithyroid Antibodies, IgM Antibodies Against Mycoplasma Pneumoniae and Human Herpesvirus 7 PCR in the CSFVenâncio, P; Brito, MJ; Pereira, G; Vieira, JParticleopenAccess
Mar-2012Mutations in CTC1, Encoding Conserved Telomere Maintenance Component 1, Cause Coats PlusAnderson, 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, YarticleopenAccess
Jul-2011Dominant and Recessive RYR1 Mutations in Adults with Core Lesions and Mild Muscle SymptomsDuarte, ST; Oliveira, J; Santos, R; Pereira, P; Barroso, C; Conceição, I; Evangelista, TarticleopenAccess
Jan-2009Mutations in the MECP2 Gene Are Not a Major Cause of Rett Syndrome-Like or Related Neurodevelopmental Phenotype in Male PatientsSantos, M; Temudo, T; Kay, T; Carrilho, I; Medeira, A; Cabral, H; Gomes, R; Lourenço, T; Venâncio, M; Calado, E; Moreira, A; Oliveira, G; Maciel, ParticleopenAccess
2011Undetectable Levels of CSF Amyloid-β Peptide in a Patient with 17β-Hydroxysteroid Dehydrogenase DeficiencyOrtez, C; Villar, C; Fons, C; Duarte, ST; Pérez, A; García-Villoria, J; Ribes, A; Ormazábal, A; Casado, M; Campistol, Jaume; Vilaseca, MA; García-Cazorla, AarticleopenAccess
Ago-2010Fractures in Children and Adolescents with Spina Bifida: The Experience of a Portuguese Tertiary-Care HospitalMarreiros, H; Monteiro, L; Loff, C; Calado, EarticleopenAccess
Set-2003Different Electroclinical Manifestations of the Epilepsy Associated with Hamartomas Connecting to the Middle or Posterior HypothalamusLeal, A; Moreira, A; Robalo, C; Ribeiro, CarticleopenAccess
Dez-2002The "Failures" of Spina Bifida Transdisciplinary CareCalado, E; Loff, CarticleopenAccess
Mai-2014Autism Spectrum Disorder Secondary to Enterovirus EncephalitisMarques, F; Brito, MJ; Conde, M; Pinto, M; Moreira, AarticleopenAccess
Jul-2006Methadone Intoxication in a Child: Toxic Encephalopathy?Anselmo, M; Campos Rainho, A; Vale, MC; Estrada, J; Valente, R; Correia, M; Vieira, JP; Barata, DarticleopenAccess
Items da Coleção (Ordenados por Data de depósito em ordem descendente): 1 até 20 de 94