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

The Clinical Spectrum and Neurodevelopmental Pathogenesis of KPTN-Related Disorder in a Mouse Model

小鼠模型中KPTN相关疾病的临床谱和神经发育发病机制

Rawlins, Lettie E; Iffland, Philip H 2nd; Page, John; Flessner, Rebecca Z; Elziny, Soad M; Sbornova, Irina; Babus, Janice K; Bruckmeier, Sophie R; Parikh, Ria; Verhoeven, Merel; Fasham, James; Leslie, Joseph S; Caswell, Richard; Ubeyratna, Nishanka; Wenger, Olivia; Scott, Ethan M; Schreiber, John; Syrbe, Steffen; Klabunde-Cherwon, Annick; Owens, Martina; Crosby, Andrew H; Baple, Emma L; Crino, Peter B

Bi-allelic UGGT1 variants cause a congenital disorder of glycosylation.

UGGT1 双等位基因变异会导致先天性糖基化障碍

Dardas Zain, Harrold Laura, Calame Daniel G, Salter Claire G, Kikuma Takashi, Guay Kevin P, Ng Bobby G, Sano Kanae, Saad Ahmad K, Du Haowei, Sangermano Riccardo, Patankar Sohil G, Jhangiani Shalini N, Gürsoy Semra, Abdel-Hamid Mohamed S, Ahmed Mahmoud K H, Maroofian Reza, Kaiyrzhanov Rauan, Salayev Kamran, Jones Wendy D, Pérez Caballero Ana, McGavin Lucy, Spiller Michael, Durkie Miranda, Wood Nick, O'Grady Lauren, Goldenberg Paula, Neumeyer Ann M, Begtrup Amber, Abdel-Ghafar Sherif F, Zaki Maha S, Van Esch Hilde, Posey Jennifer E, Wenger Olivia K, Scott Ethan M, Bujakowska Kinga M, Gibbs Richard A, Pehlivan Davut, Marafi Dana, Leslie Joseph S, Ubeyratna Nishanka, Day Jacob, Owens Martina, Settle Jessica, Balkhy Soher, Tamim Abdullah, Alabdi Lama, Alkuraya Fowzan S, Takeda Yoichi, Freeze Hudson H, Hebert Daniel N, Lupski James R, Crosby Andrew H, Baple Emma L

Propionic Acidemia diagnosed in Amish adults and pregnancy outcomes: A case series

阿米什成年人丙酸血症的诊断及其与妊娠结局:病例系列研究

Scott, Ethan M; Smith, Brandon; Liu, Joseph; Hoffman, Karlee; Hershberger, Jennifer; Crosby, Andew; Baple, Emma L; Wenger, Olivia K

Glycogen storage disease type 1a in the Ohio Amish

俄亥俄州阿米什人的糖原贮积症1a型

Scott, Ethan M; Wenger, Olivia K; Robinson, Elizabeth; Colling, Kristina; Brown, Miraides F; Hershberger, Jennifer; Radhakrishnan, Kadakkal

SAMHD1 Posttranscriptionally Controls the Expression of Foxp3 and Helios in Human T Regulatory Cells

SAMHD1 转录后控制人类 T 调节细胞中 Foxp3 和 Helios 的表达

Yong Chan Kim, Kee Kwang Kim, Jeongheon Yoon, David W Scott, Ethan M Shevach