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Items da Coleção (Ordenados por Data de depósito em ordem descendente): 1 até 20 de 85
DataTítuloAutor(es)TipoAcesso
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
Out-2008Ophthalmoplegic Migraine and Infundibular Dilatation of a Cerebral ArteryVieira, JP; Castro, J; Gomes, LB; Jacinto, S; Dias, AIarticleopenAccess
2001Non-Progressive Leukoencephalopathy with Bilateral Temporal CystsGomes, AL; Vieira, JP; Saldanha, JarticleopenAccess
Set-2006The BOLD Effect of Interictal Spike Activity in Childhood Occipital Lobe EpilepsyLeal, A; Dias, AI; Vieira, JP; Secca, M; Jordão, CarticleopenAccess
2006Short-Lasting Headaches in ChildrenVieira, JP; Salgueiro, AB; Alfaro, MarticleopenAccess
2006Epilepsy and Deletions at Chromosome 2q24Pereira, S; Vieira, JP; Cau, P; Genton, P; Szepetowski, ParticleopenAccess
2008Analysis of Highly Conserved Regions of the 3'UTR of MECP2 Gene in Patients with Clinical Diagnosis of Rett Syndrome and Other Disorders Associated with Mental RetardationSantos, M; Yan, J; Temudo, T; Oliveira, G; Vieira, JP; Fen, J; Sommer, S; Maciel, ParticleopenAccess
2009Evaluation of CSF Neurotransmitters and Folate in 25 Patients with Rett Disorder and Effects of TreatmentTemudo, T; Rios, M; Prior, C; Carrilho, I; Santos, M; Maciel, P; Sequeiros, J; Fonseca, M; Monteiro, J; Cabral, P; Vieira, JP; Ormazabal, A; Artuch, RarticleopenAccess
2011Rett Syndrome With and Without Detected MECP2 Mutations: an Attempt to Redefine PhenotypesTemudo, T; Santos, M; Ramos, E; Dias, K; Vieira, JP; Moreira, A; Calado, E; Carrilho, I; Oliveira, G; Levy, A; Barbot, C; Fonseca, M; Cabral, A; Cabral, P; Monteiro, J; Borges, L; Gomes, R; Mira, G; Pereira, SA; Santos, M; Fernandes, A; Epplen, JT; Sequeiros, J; Maciel, ParticleopenAccess
2015Variant Rett Syndrome in a Girl with a Pericentric X-Chromosome Inversion Leading to Epigenetic Changes and Overexpression of the MECP2 GeneVieira, JP; Lopes, F; Silva-Fernandes, A; Sousa, MV; Moura, S; Sousa, S; Costa, BM; Barbosa, M; Ylstra, B; Temudo, T; Lourenço, T; Maciel, ParticleopenAccess
Items da Coleção (Ordenados por Data de depósito em ordem descendente): 1 até 20 de 85