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

Single nucleotide variants in UNC13C associated with neurodevelopmental disorders affect ethanol sensitivity in Drosophila

与神经发育障碍相关的UNC13C单核苷酸变异会影响果蝇的乙醇敏感性

Müller, Franz; Neuser, Sonja; Shrestha, Gaurav; Neupane, Netra P; Götze, Katharina J; Brunetti-Pierri, Nicola; Terrone, Gaetano; Reymond, Alexandre; van Gassen, Koen L; Brilstra, Eva; Steindl, Katharina; Begemann, Anais; Rauch, Anita; Rips, Jonathan; Fahham, Duha; Barakat, Tahsin Stefan; Patat, Olivier; Mortreux, Jérémie; Chau, Matthew Hoi Kin; Rosenfeld, Jill A; Mizerik, Elizabeth; Srivastava, Swati; Luo, Xi; Dahse, Anne-Kristin; Scholz, Nicole; Das, Joydip; Roman, Gregg; Langenhan, Tobias; Abou Jamra, Rami; Mrestani, Achmed; Ljaschenko, Dmitrij

C-terminal frameshift variants in GPKOW are associated with a multisystemic X-linked disorder

GPKOW基因C端移码变异与一种多系统性X连锁疾病相关。

Mok, Jung-Wan; Mackay, Laura; Blazo, Maria; Mizerik, Elizabeth; Gecz, Jozef; Carroll, Renee; Nizon, Mathilde; Rondeau, Sophie; Joubert, Madeleine; Cuinat, Silvestre; Deb, Wallid; Valle Sirias, Fernanda; Weisz-Hubshman, Monika; Ketkar, Shamika; Polak, Urszula; Tran, Alyssa A; Kearney, Debra; Hanchard, Neil A; Kanca, Oguz; Wangler, Michael F; Bellen, Hugo J; Lee, Brendan H; Yamamoto, Shinya; Machol, Keren

MED12 Loss-of-Function Variants as a Cause of Congenital Diaphragmatic Hernia in Females With Hardikar Syndrome and Nonspecific Intellectual Disability

MED12功能缺失变异是患有哈迪卡综合征和非特异性智力障碍的女性先天性膈疝的病因

Kao, Eric C; Mizerik, Elizabeth A; Bacino, Carlos A; Dai, Hongzheng; Vossaert, Liesbeth; Scott, Daryl A

Intracranial Rhizomucor Pusillus Mucormycosis in an Adolescent Triggering a Stroke Alert: A Case Report and a Systematic Review of Pediatric Cases

青少年颅内根毛霉病引发卒中预警:病例报告及儿科病例系统综述

El Atrache, Rima; Mizerik, Melissa; Ruiz Lopez, Joaquin Francisco; Engstrom, Eric; Salazar, Karla Patricia; Guzman-Karlsson, Mikael C; Davila-Williams, Daniel; Sen, Sonali; Fisher, Kristen S; Erklauer, Jennifer C

Family Lore, a Variant of Uncertain Significance, and CADASIL

《家族传说》、《意义不明的变体》和 CADASIL

Duarte, Rhys; Vossaert, Liesbeth; Darilek, Sandra A; Rose, Chelsi; Schauer, Evan; Parobek, Christian; Bland, Emily; Machol, Keren; Mizerik, Elizabeth; Murali, Chaya N

Clinical exome sequencing uncovers genetic disorders in neonates with suspected hypoxic-ischemic encephalopathy: A retrospective analysis

临床外显子组测序揭示疑似缺氧缺血性脑病新生儿的遗传疾病:一项回顾性分析

Parobek, Christian M; Zemet, Roni; Shanahan, Matthew A; Burnett, Brian A; Mizerik, Elizabeth; Rosenfeld, Jill A; Vossaert, Liesbeth; Clark, Steven L; Hunter, Jill V; Lalani, Seema R

Expanded clinical phenotype and untargeted metabolomics analysis in RARS2-related mitochondrial disorder: a case report

RARS2相关线粒体疾病的扩展临床表型和非靶向代谢组学分析:病例报告

Walimbe, Ameya S; Machol, Keren; Kralik, Stephen F; Mizerik, Elizabeth A; Gofin, Yoel; Bekheirnia, Mir Reza; Gijavanekar, Charul; Elsea, Sarah H; Emrick, Lisa T; Scaglia, Fernando