検索結果 - Pimentel, Márcia Mattos Gonçalves

Geleophysic dysplasia: Report on two sibs 著者: Boy, Raquel, Llerena, Juan, Pimentel, Márcia Mattos Gonçalves, Almeida, José Carlos Cabral de

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Síndrome do X frágil: estudo caso-controle envolvendo pacientes pré e pós-puberais com diagnóstico confirmado por análise molecular 著者: Boy, Raquel, Correia, Patrícia Santana, Llerena, Juan Clinton, Machado-Ferreira, Maria do Carmo, Pimentel, Márcia Mattos Gonçalves

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Chromosome 6q deletion: Report of a new case and review of the literature 著者: Boy, Raquel, Pimentel, Márcia Mattos Gonçalves, Hemerly, Ana Paula, Silva, Maria do Perpétuo Socorro, Barreiro, Ana Paula, Almeida, José Carlos Cabral de, Llerena, Juan

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Exon Dosage Variations in Brazilian Patients with Parkinson’s Disease: Analysis of SNCA, PARKIN, PINK1 and DJ-1 Genes 著者: Moura, Karla Cristina Vasconcelos, Junior, Mário Campos, de Rosso, Ana Lúcia Zuma, Nicaretta, Denise Hack, Pereira, João Santos, Silva, Delson José, Santos-Rebouças, Cíntia Barros, Pimentel, Márcia Mattos Gonçalves

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Finding FMR1 mosaicism in Fragile X syndrome 著者: Gonçalves, Thaís Fernandez, dos Santos, Jussara Mendonça, Gonçalves, Andressa Pereira, Tassone, Flora, Mendoza-Morales, Guadalupe, Ribeiro, Márcia Gonçalves, Kahn, Evelyn, Boy, Raquel, Pimentel, Márcia Mattos Gonçalves, Santos-Rebouças, Cíntia Barros

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Genetic Analysis of PARK2 and PINK1 Genes in Brazilian Patients with Early-Onset Parkinson's Disease 著者: Moura, Karla Cristina Vasconcelos, Campos Junior, Mário, de Rosso, Ana Lúcia Zuma, Nicaretta, Denise Hack, Pereira, João Santos, Silva, Delson José, dos Santos, Flávia Lima, Rodrigues, Fabíola da Costa, Santos-Rebouças, Cíntia Barros, Pimentel, Márcia Mattos Gonçalves

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LRRK2 p.G2019S Mutation Is Not Common among Alzheimer’s Disease Patients in Brazil 著者: Santos-Rebouças, Cíntia Barros, Abdalla, Cláudia Bueno, Martins, Paloma Águia, Baldi, Fábio José Rodrigues, Santos, Jussara Mendonça, Motta, Luciana Branco, de Borges, Margarete Borges, Souza, Dorotéia Rossi Silva, de Souza Pinhel, Marcela Augusta, Laks, Jerson, Pimentel, Márcia Mattos Gonçalves

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A novel in-frame deletion affecting the BAR domain of OPHN1 in a family with intellectual disability and hippocampal alterations 著者: Santos-Rebouças, Cíntia Barros, Belet, Stefanie, Guedes de Almeida, Luciana, Ribeiro, Márcia Gonçalves, Medina-Acosta, Enrique, Bahia, Paulo Roberto Valle, Alves da Silva, Antônio Francisco, Lima dos Santos, Flávia, Borges de Lacerda, Glenda Corrêa, Pimentel, Márcia Mattos Gonçalves, Froyen, Guy

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Copy-Number Gains of HUWE1 Due to Replication- and Recombination-Based Rearrangements 著者: Froyen, Guy, Belet, Stefanie, Martinez, Francisco, Santos-Rebouças, Cíntia Barros, Declercq, Matthias, Verbeeck, Jelle, Donckers, Lene, Berland, Siren, Mayo, Sonia, Rosello, Monica, Pimentel, Márcia Mattos Gonçalves, Fintelman-Rodrigues, Natalia, Hovland, Randi, Rodrigues dos Santos, Suely, Raymond, F. Lucy, Bose, Tulika, Corbett, Mark A., Sheffield, Leslie, van Ravenswaaij-Arts, Conny M.A., Dijkhuizen, Trijnie, Coutton, Charles, Satre, Veronique, Siu, Victoria, Marynen, Peter

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