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Material Type: Artigo
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Variant intestinal-cell kinase in juvenile myoclonic epilepsyJ N Bailey L Nijs; D Bai; T Suzuki; H Miyamoto; M Tanaka; C Patterson; Y C Lin; M T Medina; M E Alonso; J M Serratosa; R M Durón; V H Nguyen; J E Wight; I E Martínez-Juárez; A Ochoa; A Jara-Prado; Laura Guilhoto; Y Molina; E M Yacubian; M López-Ruiz; Y Inoue; S Kaneko; S Hirose; M Osawa; H Oguni; S Fujimoto; T M Grisar; J M Stern; K Yamakawa; B Lakaye; A V Delgado-EscuetaNew England Journal of Medicine Boston v. 378, n. 11, p. 1018-1028, mar. 2018Boston 2018Acesso online. A biblioteca também possui exemplares impressos. |
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Material Type: Artigo
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EFHC1 variants in juvenile myoclonic epilepsy reanalysis according to NHGRI and ACMG guidelines for assigning disease causalityJulia N Bailey Christopher Patterson; Laurence de Nijs; Reyna M Durón; Viet-Huong Nguyen; Miyabi Tanaka; Marco T Medina; Aurelio Jara-Prado; Iris E Martínez-Juárez; Adriana Ochoa; Yolli Molina; Toshimitsu Suzuki; María E Alonso; Jenny E Wight; Yu-Chen Lin; Laura Maria de Figueiredo Ferreira Guilhoto; Elza Marcia Targas Yacubian; Jesús Machado-Salas; Andrea Daga; Kazuhiro Yamakawa; Thierry M Grisar; Bernard Lakaye; Antonio V Delgado-EscuetaGenetics in Medicine Baltimore v. 19, n. 2, p. 144-156, feb. 2017Baltimore 2017Localização: HU - Hospital Universitário (Separatas 2017 )(Acessar) |