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

DLG4-Related Synaptopathy and Coexisting Fabry's Disease: A Case Report

DLG4相关突触病变合并法布里病:病例报告

San-Juan, Daniel; Benitez-Alonso, Edmar O; López-Castellanos, Fabiola M; Amador-Machuca, Carolayn A; Gutiérrez-Maciel, Derek; Camacho-Castillo, Evelin Z

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

Short-Communication: Variable Expression of Clinical Symptoms and an Unexpected Finding of Vacuolar Myopathy Related to a Pathogenic Variant in the CACNA1S Gene in a Previous Case Report

简讯:既往病例报告中CACNA1S基因致病变异导致的临床症状表现多样及意外发现的空泡性肌病

Benítez-Alonso, Edmar O; López-Hernández, Juan C; Galnares-Olalde, Javier A; Alcalá, Raúl E; Vargas-Cañas, Edwin S

A Novel GMPPA Mutation in Two Adult Sisters with Achalasia, Alacrima, Short Stature, Dysmorphism, and Intellectual Disability

两名成年姐妹患有贲门失弛症、无泪症、身材矮小、面部畸形和智力障碍,其携带一种新的GMPPA基因突变

Benítez, Edmar O; Morales, Juan J; Muñoz, Luis A; Hübner, Christian A; Mutchinick, Osvaldo M