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

Multi-center retrospective analysis of potentially non-urgent emergency department visits in Israel using a nationwide dataset

利用以色列全国数据集对可能非紧急的急诊就诊进行多中心回顾性分析

Leshinski, Roman; Plakht, Ygal; Farojeh, Abdulhadi Zidan

Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohort

先天性糖基化障碍前沿联盟,一项针对自然史队列中 280 名个体进行的第 5 年横断面研究报告

Lam, Christina; Scaglia, Fernando; Berry, Gerard T; Larson, Austin; Sarafoglou, Kyriakie; Andersson, Hans C; Sklirou, Evgenia; Tan, Queenie K G; Starosta, Rodrigo T; Sadek, Mustafa; Wolfe, Lynne; Horikoshi, Seishu; Ali, May; Barone, Rita; Campbell, Teresa; Chang, Irene J; Coles, Kiaira; Cook, Edward; Eklund, Erik A; Engelhardt, Nicole M; Freeman, Mary; Friedman, Jennifer; Fu, Debbie Y T; Botzo, Grace; Rawls, Brandy; Hernandez, Christien; Johnsen, Christin; Keller, Kierstin; Kramer, Sara; Kuschel, Bryce; Leshinski, Angela; Martinez-Duncker, Ivan; Mazza, Gina L; Mercimek-Andrews, Saadet; Miller, Bradley S; Muthusamy, Karthik; Neira, Juanita; Patterson, Marc C; Pogorelc, Natalie; Powers, Lex N; Ramey, Elizabeth; Reinhart, Michaela; Squire, Audrey; Thies, Jenny; Vockley, Jerry; Vreugdenhil, Hayden; Witters, Peter; Youbi, Mehdi; Zeighami, Aziza; Zemet, Roni; Edmondson, Andrew C; Morava, Eva

Clinical, biochemical and molecular characterization of 12 patients with pyruvate carboxylase deficiency treated with triheptanoin

对12例接受三庚酸甘油酯治疗的丙酮酸羧化酶缺乏症患者进行临床、生化和分子特征分析

Lasio, M Laura Duque; Leshinski, Angela C; Ducich, Nicole H; Flore, Leigh Anne; Lehman, April; Shur, Natasha; Jayakar, Parul B; Hainline, Bryan E; Basinger, Alice A; Wilson, William G; Diaz, George A; Erbe, Richard W; Koeberl, Dwight D; Vockley, Jerry; Bedoyan, Jirair K

A porcine model of phenylketonuria generated by CRISPR/Cas9 genome editing

通过 CRISPR/Cas9 基因组编辑生成苯丙酮尿症猪模型

Erik A Koppes, Bethany K Redel, Marie A Johnson, Kristen J Skvorak, Lina Ghaloul-Gonzalez, Megan E Yates, Dale W Lewis, Susanne M Gollin, Yijen L Wu, Shawn E Christ, Martine Yerle, Angela Leshinski, Lee D Spate, Joshua A Benne, Stephanie L Murphy, Melissa S Samuel, Eric M Walters, Sarah A Hansen, Ke