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

Targeted long-read RNA sequencing for rare disease diagnosis and variant interpretation

靶向长读长RNA测序用于罕见病诊断和变异解读

Wang, Robert; Wang, Feng; DeBruyne, Nicole; Ji, Xinjun; Engelhardt, Nicole M; Park, Joseph Jee-Hwan; Notaro, Amber; Gaerlan, Samantha; Park, Ryan; Schultz, Matthew J; Clever, Sheila; McCormick, Elizabeth M; Keith, Kelsey; Ng, Bobby G; Kadash-Edmondson, Kathryn E; Freeze, Hudson H; Lam, Christina T; Morava, Eva; Helbig, Ingo; Falk, Marni J; Ganetzky, Rebecca D; Edmondson, Andrew C; Lin, Lan; Xing, Yi

Permissive immunosuppression facilitates the expansion of ex vivo administered regulatory T cells in the lung allograft

允许性免疫抑制促进体外输注的调节性T细胞在肺移植中的扩增

Takahagi, Akihiro; Miyamoto, Ei; Lam, Christina; Liu, Mingyao; Joe, Betty; Wang, Xiaomin; Hwang, David; Martinu, Tereza; Cypel, Marcelo; Keshavjee, Shaf; Juvet, Stephen

Neurodevelopmental profiles of 14 individuals with phosphomannomutase deficiency (PMM2-CDG)

14 例磷酸甘露糖变位酶缺乏症 (PMM2-CDG) 患者的神经发育特征

Weixel, Tara; Adedipe, Dee; Muldoon, Glennis; Lam, Christina; Krasnewich, Donna; Thurm, Audrey; Wolfe, Lynne

Polyamine metabolism is dysregulated in COXFA4-related mitochondrial disease

COXFA4相关线粒体疾病中多胺代谢紊乱

Marquez, Jonathan; Viviano, Stephen; Beckman, Erika; Thies, Jenny; Friedland-Little, Joshua; Lam, Christina T; Deniz, Engin; Shelkowitz, Emily

Goal attainment in PMM2-CDG: A new approach measuring meaningful clinical outcomes

PMM2-CDG 中的目标达成情况:一种衡量有意义临床结果的新方法

Verberkmoes, Sanne; Mazza, Gina L; Edmondson, Andrew C; Scaglia, Fernando; Horikoshi, Seishu; Kuschel, Bryce; Janssen, Mirian C H; Mousa, Jehan; Larson, Austin; Shah, Rameen; McDonald, Georgia; Sarafoglou, Kyriaki; Berry, Gerard; Kozicz, Tamas; Lam, Christina; Morava, Eva

Causes of mortality in the congenital disorders of glycosylation

先天性糖基化障碍的死亡原因

Alharbi, Hana; Horikoshi, Seishu; Jenkins, Sabrina Malone; Scaglia, Fernando; Lam, Christina; Morava, Eva; Larson, Austin; Edmondson, Andrew C

A complement C4-derived glycopeptide is a biomarker for PMM2-CDG

补体C4衍生的糖肽是PMM2-CDG的生物标志物。

Garapati, Kishore; Budhraja, Rohit; Saraswat, Mayank; Kim, Jinyong; Joshi, Neha; Sachdeva, Gunveen S; Jain, Anu; Ligezka, Anna N; Radenkovic, Silvia; Ramarajan, Madan Gopal; Udainiya, Savita; Raymond, Kimiyo; He, Miao; Lam, Christina; Larson, Austin; Edmondson, Andrew C; Sarafoglou, Kyriakie; Larson, Nicholas B; Freeze, Hudson H; Schultz, Matthew J; Kozicz, Tamas; Morava, Eva; Pandey, Akhilesh

Early anticoagulation in patients with stroke and atrial fibrillation is associated with fewer ischaemic lesions at 1 month: the ATTUNE study

ATTUNE研究表明,对卒中合并房颤患者早期进行抗凝治疗与1个月时缺血性病变减少相关。

Sharobeam, Angelos; Lin, Longting; Lam, Christina; Garcia-Esperon, Carlos; Gawarikar, Yash; Patel, Ronak; Lee-Archer, Matthew; Wong, Andrew; Roizman, Michael; Gilligan, Amanda; Lee, Andrew; Tan, Kee Meng; Day, Susan; Levi, Christopher; Davis, Stephen M; Parsons, Mark; Yan, Bernard

Acceleration of Ethanol Metabolism by a Patented Bos taurus Isolated Alcohol Degradation Protein (ADP) on Acute Alcohol Consumption

专利牛分离酒精降解蛋白 (ADP) 在急性酒精摄入过程中加速乙醇代谢

Bun Tsoi, Huan Zhang, Chun-Pang So, Angel Ka-Kei Lam, Christina Chui-Wa Poon, Sek-Lun Law, Bing-Lou Wong, Sai-Wang Seto

Deficient glycan extension and endoplasmic reticulum stresses in ALG3-CDG

ALG3-CDG 中糖链延伸不足和内质网应激

Daniel, Earnest J P; Edmondson, Andrew C; Argon, Yair; Alsharhan, Hind; Lam, Christina; Freeze, Hudson H; He, Miao