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

Deep Intronic SVA_E Insertion Identified as the Most Common Pathogenic Variant Associated With Canavan Disease: A Diagnostic Blind Spot

深内含子SVA_E插入被确定为与卡纳万病相关的最常见致病变异:诊断盲点

Carlos A Dominguez Gonzalez ,Katrina M Bell ,Ramakrishnan Rajagopalan ,Michelle G de Silva ,Aída Lemes ,Cristina Zabala ,Florencia Pérez-Vidarte ,Alfredo Cerisola ,Arastoo Vossough ,Matthew T Whitehead ,Chloe Cunningham ,Natasha J Brown ,Rebecca Quin ,Cas Simons ,Thomas Conway ,Eloise Uebergang ,Rocio Rius ,Meutia A Kumaheri ,Emma R Kotes ,Ananya Vohra ,Miranda P G Zalusky ,Zachary B Anderson ,Sophie H R Storz ,Sydney A Ward ,Joy Goffena ,Jonas A Gustafson ,Susan M White ,Adeline Vanderver ,Danny E Miller

Determination of Health Concepts in β-Propeller Protein-Associated Neurodegeneration

β-螺旋桨蛋白相关神经退行性疾病健康概念的确定

Kotes, Emma; Gavazzi, Francesco; Woidill, Sarah; Sevagamoorthy, Anjana; Yang, Eric; Smith, Vanessa; Dubbs, Holly; Pierce, Samuel R; Pucci, Kristy; Vithayathil, Joseph; Thakur, Nivedita; Adang, Laura A

Clinically Important Endpoints in Individuals With Leukodystrophy: A Multisite Study

脑白质营养不良患者的临床重要终点:一项多中心研究

Kotes, Emma R; Woidill, Sarah; D'Aiello, Russell; Khan, Amina; McCann, Jacob; Ramos, Mark; Gavazzi, Francesco; Keller, Stephanie; Van Haren, Keith; Fatemi, Ali; Eichler, Florian; Bonkowsky, Joshua; Fraser, Jamie; Emrick, Lisa; Sherbini, Omar; Hackett, Ashley; Gauna, Jeilo; Amos, Dandre; Goodman, Jordan; Fine, Amena Smith; Nagy, Amanda; Lee, Seungil; Page, Nicole; Schmidt, Johanna; Pizzino, Amy; Muirhead, Kayla; Bennett, Mariko; Waldman, Amy; Shults, Justine; Adang, Laura; Grundmeier, Robert; Vanderver, Adeline

Longitudinal natural history studies based on real-world data in rare diseases: Opportunity and a novel approach

基于真实世界数据的罕见病纵向自然史研究:机遇与新方法

Adang, Laura Ann; Sevagamoorthy, Anjana; Sherbini, Omar; Fraser, Jamie L; Bonkowsky, Joshua L; Gavazzi, Francesco; D'Aiello, Russel; Modesti, Nicholson B; Yu, Emily; Mutua, Sylvia; Kotes, Emma; Shults, Justine; Vincent, Ariel; Emrick, Lisa T; Keller, Stephanie; Van Haren, Keith P; Woidill, Sarah; Barcelos, Isabella; Pizzino, Amy; Schmidt, Johanna L; Eichler, Florian; Fatemi, Ali; Vanderver, Adeline

Neutrophil-to-Lymphocyte Ratios and Infections after Traumatic Brain Injury: Associations with Hospital Resource Utilization and Long-Term Outcome

中性粒细胞与淋巴细胞比值及创伤性脑损伤后感染:与医院资源利用和长期预后的关联

Levochkina, Marina; McQuillan, Leah; Awan, Nabil; Barton, David; Maczuzak, John; Bianchine, Claudia; Trombley, Shannon; Kotes, Emma; Wiener, Joshua; Wagner, Audrey; Calcagno, Jason; Maza, Andrew; Nierstedt, Ryan; Ferimer, Stephanie; Wagner, Amy

The efficacy and tolerability of mirabegron, a β3 adrenoceptor agonist, in patients with symptoms of overactive bladder

米拉贝隆(一种β3肾上腺素受体激动剂)治疗膀胱过度活动症患者的疗效和耐受性

Thiagamoorthy, Ganesh; Kotes, Stephanie; Zacchè, Martino; Cardozo, Linda