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

Succinate supplementation ameliorates musculoskeletal defects caused by PLOD3 mutations in a BCARD syndrome model

琥珀酸补充剂可改善BCARD综合征模型中由PLOD3突变引起的肌肉骨骼缺陷

Choudhary, Dharmendra; Unlu, Gokhan; Nagai, Taylor H; Melville, David B; Scalici, Alexandra; Hashem, Mais O; Ritter, Dylan J; Schmidt, Georg; Guthrie, Cory L; Gamazon, Eric R; Alkuraya, Fowzan S; Cox, Nancy J; Knapik, Ela W

Gene and phenome-based analysis of the shared genetic architecture of eye diseases

基于基因和表型组的眼病共同遗传结构分析

Scalici, Alexandra; Miller-Fleming, Tyne W; Shuey, Megan M; Baker, James T; Betti, Michael; Hirbo, Jibril; Knapik, Ela W; Cox, Nancy J

Systematic method for classifying multiple congenital anomaly cases in electronic health records

电子健康记录中多发性先天性异常病例分类的系统方法

Brokamp, Elly; Miller-Fleming, Tyne; Scalici, Alexandra; Hooker, Gillian; Hamid, Rizwan; Velez Edwards, Digna; Chung, Wendy K; Luo, Yuan; Kiryluk, Krzysztof; Limidi, Nita A; Khankari, Nikhil K; Cox, Nancy J; Bastarache, Lisa; Shuey, Megan M

Frequency of Variants in Mendelian Alzheimer's Disease Genes within the Alzheimer's Disease Sequencing Project (ADSP)

阿尔茨海默病测序计划 (ADSP) 中孟德尔阿尔茨海默病基因变异的频率

Wang, Dongyu; Scalici, Alexandra; Wang, Yanbing; Lin, Honghuang; Pitsillides, Achilleas; Heard-Costa, Nancy; Cruchaga, Carlos; Ziegemeier, Ellen; Bis, Joshua C; Fornage, Myriam; Boerwinkle, Eric; De Jager, Phillip L; Wijsman, Ellen; Dupuis, Josee; Renton, Alan E; Seshadri, Sudha; Goate, Alison M; DeStefano, Anita L; Peloso, Gina M

Initiation and early growth of the skull vault in zebrafish.

斑马鱼颅盖的起始和早期生长

Kanther Michelle, Scalici Alexandra, Rashid Azman, Miao Kelly, Van Deventer Ella, Fisher Shannon