GIGYF1 disruption associates with autism and impaired IGF-1R signaling by Chen, Guodong, Yu, Bin, Tan, Senwei, Tan, Jieqiong, Jia, Xiangbin, Zhang, Qiumeng, Zhang, Xiaolei, Jiang, Qian, Hua, Yue, Han, Yaoling, Luo, Shengjie, Hoekzema, Kendra, Bernier, Raphael A, Earl, Rachel K, Kurtz-Nelson, Evangeline C, Idleburg, Michaela J, Madan-Khetarpal, Suneeta, Clark, Rebecca, Sebastian, Jessica, Fernandez-Jaen, Alberto, Alvarez, Sara, King, Staci D, Ramos, Luiza L.P, Santos, Mara Lucia S.F, Martin, Donna M, Brooks, Dan, Symonds, Joseph D, Cutcutache, Ioana, Pan, Qian, Hu, Zhengmao, Yuan, Ling, Eichler, Evan E, Xia, Kun, Guo, Hui

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Status Dystonicus: study of five cases by Teive, Hélio A G, Munhoz, Renato P, Souza, Mônica M, Antoniuk, Sérgio A, Santos, Mara Lucia S F, Teixeira, Manoel Jacobsen, Barbosa, Egberto Reis, Carvalho, Rodrigo C, Scaff, Milberto, Werneck, Lineu César

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NDUFV1 mutations in complex I deficiency: Case reports and review of symptoms by Zanette, Vanessa, Valle, Daniel do, Telles, Bruno Augusto, Robinson, Alan J., Monteiro, Vaneisse, Santos, Mara Lucia S. F., Souza, Ricardo Lehtonen R., Benincá, Cristiane

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MELAS: clinical features, muscle biopsy and molecular genetics by Lorenzoni, Paulo José, Scola, Rosana H, Kay, Cláudia S Kamoi, Arndt, Raquel C, Freund, Aline A, Bruck, Isac, Santos, Mara Lúcia S F, Werneck, Lineu C

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Pancreatite necro-hemorrágica fatal associada ao uso de valproato de sódio: relato de caso by Munhoz, Renato P., Santos, Mara Lucia S.F. dos, Hernández-Fustes, Otto Jesus

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Griscelli syndrome and electroencephalography pattern by Vieira-Karuta, Simone C., Silva, Izabella C. Bertoldo, Almeida, Nádia Aparecida P., Noronha, Lúcia de, Santos, Mara Lúcia S.F., Liberalesso, Paulo B.N.

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Status dystonicus: study of five cases Status dystonicus: estudo de cinco casos by Hélio A.G. Teive, Renato P. Munhoz, Mônica M. Souza, Sérgio A. Antoniuk, Mara Lucia S.F. Santos, Manoel Jacobsen Teixeira, Egberto Reis Barbosa, Rodrigo C. Carvalho, Milberto Scaff, Lineu César Werneck

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Pancreatite necro-hemorrágica fatal associada ao uso de valproato de sódio: relato de caso by Munhoz, Renato P., Santos, Mara Lucia S.F. dos, Hernández-Fustes, Otto Jesus

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