日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice

基因检测在指导癫痫治疗管理中的应用:一项国际临床实践研究

McKnight, Dianalee; Morales, Ana; Hatchell, Kathryn E; Bristow, Sara L; Bonkowsky, Joshua L; Perry, Michael Scott; Berg, Anne T; Borlot, Felippe; Esplin, Edward D; Moretz, Chad; Angione, Katie; Ríos-Pohl, Loreto; Nussbaum, Robert L; Aradhya, Swaroop; Haldeman-Englert, Chad R; Levy, Rebecca J; Parachuri, Venu G; Lay-Son, Guillermo; de Montellano, David J Dávila-Ortiz; Ramirez-Garcia, Miguel Angel; Benítez Alonso, Edmar O; Ziobro, Julie; Chirita-Emandi, Adela; Felix, Temis M; Kulasa-Luke, Dianne; Megarbane, Andre; Karkare, Shefali; Chagnon, Sarah L; Humberson, Jennifer B; Assaf, Melissa J; Silva, Sebastian; Zarroli, Katherine; Boyarchuk, Oksana; Nelson, Gary R; Palmquist, Rachel; Hammond, Katherine C; Hwang, Sean T; Boutlier, Susan B; Nolan, Melinda; Batley, Kaitlin Y; Chavda, Devraj; Reyes-Silva, Carlos Alberto; Miroshnikov, Oleksandr; Zuccarelli, Britton; Amlie-Wolf, Louise; Wheless, James W; Seinfeld, Syndi; Kanhangad, Manoj; Freeman, Jeremy L; Monroy-Santoyo, Susana; Rodriguez-Vazquez, Natalia; Ryan, Monique M; Machie, Michelle; Guerra, Patricio; Hassan, Muhammad Jawad; Candee, Meghan S; Bupp, Caleb P; Park, Kristen L; Muller, Eric 2nd; Lupo, Pamela; Pedersen, Robert C; Arain, Amir M; Murphy, Andrea; Schatz, Krista; Mu, Weiyi; Kalika, Paige M; Plaza, Lautaro; Kellogg, Marissa A; Lora, Evelyn G; Carson, Robert P; Svystilnyk, Victoria; Venegas, Viviana; Luke, Rebecca R; Jiang, Huiyuan; Stetsenko, Tetiana; Dueñas-Roque, Milagros M; Trasmonte, Joseph; Burke, Rebecca J; Hurst, Anna C E; Smith, Douglas M; Massingham, Lauren J; Pisani, Laura; Costin, Carrie E; Ostrander, Betsy; Filloux, Francis M; Ananth, Amitha L; Mohamed, Ismail S; Nechai, Alla; Dao, Jasmin M; Fahey, Michael C; Aliu, Ermal; Falchek, Stephen; Press, Craig A; Treat, Lauren; Eschbach, Krista; Starks, Angela; Kammeyer, Ryan; Bear, Joshua J; Jacobson, Mona; Chernuha, Veronika; Meibos, Bailey; Wong, Kristen; Sweney, Matthew T; Espinoza, A Chris; Van Orman, Colin B; Weinstock, Arie; Kumar, Ashutosh; Soler-Alfonso, Claudia; Nolan, Danielle A; Raza, Muhammad; Rojas Carrion, Miguel David; Chari, Geetha; Marsh, Eric D; Shiloh-Malawsky, Yael; Parikh, Sumit; Gonzalez-Giraldo, Ernesto; Fulton, Stephen; Sogawa, Yoshimi; Burns, Kaitlyn; Malets, Myroslava; Montiel Blanco, Johnny David; Habela, Christa W; Wilson, Carey A; Guzmán, Guillermo G; Pavliuk, Mariia

TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features

TBC1D24基因型-表型相关性:癫痫和其他神经系统特征

Balestrini, Simona; Milh, Mathieu; Castiglioni, Claudia; Lüthy, Kevin; Finelli, Mattea J; Verstreken, Patrik; Cardon, Aaron; Stražišar, Barbara Gnidovec; Holder, J Lloyd Jr; Lesca, Gaetan; Mancardi, Maria M; Poulat, Anne L; Repetto, Gabriela M; Banka, Siddharth; Bilo, Leonilda; Birkeland, Laura E; Bosch, Friedrich; Brockmann, Knut; Cross, J Helen; Doummar, Diane; Félix, Temis M; Giuliano, Fabienne; Hori, Mutsuki; Hüning, Irina; Kayserili, Hulia; Kini, Usha; Lees, Melissa M; Meenakshi, Girish; Mewasingh, Leena; Pagnamenta, Alistair T; Peluso, Silvio; Mey, Antje; Rice, Gregory M; Rosenfeld, Jill A; Taylor, Jenny C; Troester, Matthew M; Stanley, Christine M; Ville, Dorothee; Walkiewicz, Magdalena; Falace, Antonio; Fassio, Anna; Lemke, Johannes R; Biskup, Saskia; Tardif, Jessica; Ajeawung, Norbert F; Tolun, Aslihan; Corbett, Mark; Gecz, Jozef; Afawi, Zaid; Howell, Katherine B; Oliver, Karen L; Berkovic, Samuel F; Scheffer, Ingrid E; de Falco, Fabrizio A; Oliver, Peter L; Striano, Pasquale; Zara, Federico; Campeau, Phillipe M; Sisodiya, S M

A noncoding expansion in EIF4A3 causes Richieri-Costa-Pereira syndrome, a craniofacial disorder associated with limb defects

EIF4A3基因的非编码扩增会导致Richieri-Costa-Pereira综合征,这是一种与肢体缺陷相关的颅面畸形。

Favaro, Francine P; Alvizi, Lucas; Zechi-Ceide, Roseli M; Bertola, Debora; Felix, Temis M; de Souza, Josiane; Raskin, Salmo; Twigg, Stephen R F; Weiner, Andrea M J; Armas, Pablo; Margarit, Ezequiel; Calcaterra, Nora B; Andersen, Gregers R; McGowan, Simon J; Wilkie, Andrew O M; Richieri-Costa, Antonio; de Almeida, Maria L G; Passos-Bueno, Maria Rita

Periconceptional use of folic acid and risk of miscarriage - findings of the Oral Cleft Prevention Program in Brazil

巴西唇腭裂预防项目研究发现,孕前服用叶酸与流产风险相关。

Vila-Nova, Camila; Wehby, George L; Queirós, Fernanda C; Chakraborty, Hrishkesh; Félix, Temis M; Goco, Norman; Moore, Janet; Gewehr, Eduardo V; Lins, Lorene; Affonso, Carla M C; Murray, Jeffrey C