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Lista de resultados: 1-10 de um total de 23 resultados (tempo de pesquisa: 0.359 segundos).
DataTítuloAutor(es)TipoAcesso
2016Recurrent copy number variations as risk factors for neurodevelopmental disorders: critical overview and analysis of clinical implicationsTorres, Fátima; Barbosa, Mafalda Fernanda Cabral Santos; Maciel, P.ArtigoAcesso aberto
Jan-2015The role of the mammalian DNA end-processing enzyme polynucleotide kinase 3'-phosphatase in spinocerebellar ataxia Type 3 pathogenesisChatterjee, Arpita; Saha, Saikat; Chakraborty, Anirban; Silva-Fernandes, Anabela; Mandal, Santi M.; Neves-Carvalho, Andreia; Liu, Yongping; Pandita, Raj K.; Hegde, Muralidhar L.; Hegde, Pavana M.; Boldogh, Istvan; Ashizawa, Tetsuo; Koeppen, Arnulf H.; Pandita, Tej K.; Maciel, P.; Sarkar, Partha S.; Hazra, Tapas K.ArtigoAcesso aberto
21-Set-2017A novel microduplication of ARID1B: Clinical, genetic, and proteomic findingsSeabra, Catarina M.; Szoko, Nicholas; Erdin, Serkan; Ragavendran, Ashok; Stortchevoi, Alexei; Maciel, P.; Lundberg, Kathleen; Schlatzer, Daniela; Smith, Janice; Talkowski, Michael E.; et. al.ArtigoAcesso aberto
Dez-2018Tauroursodeoxycholic Acid Improves Motor Symptoms in a Mouse Model of Parkinson's DiseaseRosa, Alexandra Isabel; Silva, Sara Carina Duarte; Silva-Fernandes, Anabela; Nunes, Maria João; Carvalho, Andreia Neves; Rodrigues, Elsa; Gama, Maria João; Rodrigues, Cecília Maria Pereira; Maciel, P.; Castro-Caldas, MargaridaArtigoAcesso aberto
Nov-2013Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patientsSanten, Gijs W. E.; Aten, Emmelien; Vulto-van Silfhout, Anneke T.; Pottinger, Caroline; van Bon, Bregje W. M.; van Minderhout, Ivonne J. H. M.; Snowdowne, Ronelle; van der Lans, Christian A. C.; Boogaard, Merel; Linssen, Margot M. L.; Vijfhuizen, Linda; van der Wielen, Michiel J. R.; Vollebregt, M. J. Ellen; Breuning, Martijn H.; Kriek, Marjolein; van Haeringen, Arie; den Dunnen, Johan T.; Hoischen, Alexander; Clayton-Smith, Jill; de Vries, Bert B. A.; Hennekam, Raoul C. M.; van Belzen, Martine J.; Maciel, P.; Barbosa, Mafalda; Coffin-Siris consortiumArtigoAcesso restrito UMinho
Jun-2007MECP2 coding sequence and 3'UTR variation in 172 unrelated autistic patientsCoutinho, Ana M.; Oliveira, Guiomar; Katz, Cécile; Feng, Jinong; Yan, Jin; Yang, Chunmei; Marques, Carla; Ataíde, Assunção; Miguel, Teresa S.; Borges, Luís; Almeida, Joana; Correia, Catarina; Currais, António; Bento, Celeste; Mota-Vieira, Luísa; Temudo, Teresa; Santos, Mónica; Maciel, P.; Sommer, Steve S.; Vicente, Astrid M.ArtigoAcesso restrito UMinho
Out-2010Mutational analysis of MSX1 and PAX9 genes in Portuguese families with maxillary lateral incisor agenesisPinho, Teresa; Silva-Fernandes, Anabela; Bousbaa, Hassan; Maciel, P.ArtigoAcesso aberto
2019GST-4-dependent suppression of neurodegeneration in C. elegans models of Parkinson's and Machado-Joseph disease by rapeseed pomace extract supplementationPaul, Franziska; Castro, Andreia Cristiana Teixeira; Costa, Marta Daniela; Lindsay, Victoria; Fiúza-Fernandes, Juliana; Goua, Marie; Bermano, Giovanna; Russell, Wendy; Maciel, P.; Kong Thoo Lin, PaulArtigoAcesso aberto
13-Out-2010Monoamine deficits in the brain of methyl-CpG binding protein 2 null mice suggest the involvement of the cerebral cortex in early stages of Rett syndromeSantos, M.; Summavielle, T.; Teixeira-Castro, A.; Silva-Fernandes, Anabela; Duarte-Silva, S.; Marques, Fernanda; Martins, L.; Dierssen, M.; Oliveira, P.; Sousa, Nuno; Maciel, P.ArtigoAcesso restrito UMinho
Abr-2007Evidence for abnormal early development in a mouse model of Rett syndromeSantos, Mónica; Silva-Fernandes, Anabela; Oliveira, P.; Sousa, Nuno; Maciel, P.ArtigoAcesso restrito UMinho
1-10 de um total de 23 resultados (tempo de pesquisa: 0.359 segundos).

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