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The most recurrent monogenic disorders that overlap with the phenotype of Rett syndrome
(W.B. Saunders Ltd, 2019)
Rett syndrome (RTT) is an early-onset neurodevelopmental disorder that is caused by mutations in the MECP2 gene; however, defects in other genes (CDKL5 and FOXG1) can lead to presentations that resemble classic RTT, although ...
WDR45 mutations in Rett (-like) syndrome and developmental delay: Case report and an appraisal of the literature
(Academic Press Ltd - Elsevier Science Ltd, 2016-02)
Mutations in the WDR45 gene have been identified as causative for the only X-linked type of neurodegeneration with brain iron accumulation (NBIA), clinically characterized by global developmental delay in childhood, followed ...
Estudos moleculares na Sindrome de Rett
([s.n.], 2002)
Estudo da expressão gênica de proteínas relacionadas com o estado tiroidiano durante a rediferenciação de células pluripotentes em neurônios enriqueciso humanos com mutação do MeCP2
(Universidade Federal de São Paulo (UNIFESP), 2016-08-31)
Rett syndrome (RTT; MIM 312750) is a severe neurodegenerative disease that mainly affects girls, and its principal cause is the mutation in the methyl CpG binding protein 2 gene (MECP2), this gene is present in the X ...
Exclusion Mapping
(2016)
Exclusion Mapping
(2011)
Explain like I'm five: etnografia de um grupo online de divulgação científica colaborativa
(Universidade Federal do Rio de JaneiroBrasilEscola de ComunicaçãoUFRJ, 2017)
Like a skyscraper: a construção da narrativa terapêutica de Demi Lovato e os reflexos em sua comunidade de fãs
(Universidade Federal do Rio de JaneiroBrasilEscola de ComunicaçãoUFRJ, 2021)
Networks do YouTube: a paramaker e o e o case Arcor
(Universidade Federal do Rio de JaneiroBrasilEscola de ComunicaçãoUFRJ, 2016)