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

Longitudinal Observation of Children with Achondroplasia: Findings from a Global Natural History Study (ACHieve)

对软骨发育不全患儿的纵向观察:一项全球自然史研究(ACHieve)的发现

McDonnell, Ciara; Hove, Hanne Buciek; Irving, Melita; White, Klane K; Fontecha, Cesar G; Legare, Janet M; Högler, Wolfgang; Hoernschemeyer, Daniel G; Schnabel, Dirk; Unger, Sheila; Bacino, Carlos Alberto; Hofman, Paul; Yu, Yongguo; Ma, Huamei; Gong, Chunxiu; Luo, Xiaoping; Burrow, T Andrew; Baujat, Geneviève; Mora, Stefano; Fiscaletti, Melissa; Zhao, Carol; Makara, Michael A; Shu, Aimee D; Savarirayan, Ravi

Empowering Independence in Spina Bifida: A Scoping Review of Interventions

增强脊柱裂患者的独立能力:干预措施的范围界定综述

Wilson, Camille S; Bradstreet, Lauren E; Ludwig, Natasha N; Gehred, Alison; Stephan, Catherine; Zabel, T Andrew; Koterba, Christine

Exploring Integrin α5β1 as a Potential Therapeutic Target for Pulmonary Arterial Hypertension: Insights From Comprehensive Multicenter Preclinical Studies

探索整合素α5β1作为肺动脉高压潜在治疗靶点:来自综合多中心临床前研究的启示

Lemay, Sarah-Eve; Montesinos, Mónica S; Grobs, Yann; Yokokawa, Tetsuro; Shimauchi, Tsukasa; Mougin, Manon; Romanet, Charlotte; Sauvaget, Mélanie; Breuils-Bonnet, Sandra; Bourgeois, Alice; Théberge, Charlie; Pelletier, Andréanne; El Kabbout, Reem; Martineau, Sandra; Yamamoto, Keiko; Akram, Muzaffar; Ray, Adrian S; Lippa, Blaise; Goodwin, Bryan; Lin, Fu-Yang; Wang, Hua; Dowling, James E; Lu, Min; Qiao, Qi; McTeague, T Andrew; Moy, Terence I; Potus, François; Provencher, Steeve; Boucherat, Olivier; Bonnet, Sébastien

Variants in BSN, encoding the presynaptic protein Bassoon, result in a distinct neurodevelopmental disorder with a broad phenotypic range

编码突触前蛋白 Bassoon 的 BSN 基因变异会导致一种独特的神经发育障碍,其表型范围很广。

Guzman, Stacy G; Ruggiero, Sarah M; Ganesan, Shiva; Ellis, Colin A; Harrison, Alicia G; Sullivan, Katie R; Stark, Zornitza; Brown, Natasha J; Kana, Sajel L; Tuttle, Anabelle; Tenorio, Jair; Lapunzina, Pablo; Nevado, Julián; McDonald, Marie T; Jensen, Courtney; Wheeler, Patricia G; Stange, Lila; Morrison, Jennifer; Keren, Boris; Heide, Solveig; Keating, Meg W; Butler, Kameryn M; Lyons, Mike A; Jain, Shailly; Yeganeh, Mehdi; Thompson, Michelle L; Schroeder, Molly; Nguyen, Hoanh; Granadillo, Jorge; Johnston, Kari M; Murali, Chaya N; Bosanko, Katie; Burrow, T Andrew; Morgan, Syreeta; Watson, Deborah J; Hakonarson, Hakon; Helbig, Ingo

Bi-functional integrin degraders cause stronger anti-proliferative effects than a blocking antibody by modulating distinct downstream signaling

双功能整合素降解剂通过调节不同的下游信号通路,产生比阻断抗体更强的抗增殖作用。

Monroy, Meghan F; Krumpoch, Megan; McTeague, T Andrew; Fee, Angela; Lee, Dooyoung; Zhou, Zhaohui Sunny; Lin, Fu-Yang

Profound hypotonia in an infant with δ-aminolevulinic acid dehydratase deficient porphyria

患有δ-氨基乙酰丙酸脱水酶缺乏性卟啉症的婴儿出现严重肌张力低下

Roach, Alexis N; Barkley, Hannah; Rodriquez, Carissa; Burrow, T Andrew; Anderson, Karl E; Shukla, Ankita

Correction: Profound hypotonia in an infant with δ-aminolevulinic acid dehydratase deficient porphyria

更正:患有δ-氨基乙酰丙酸脱水酶缺乏性卟啉症的婴儿出现严重肌张力低下

Roach, Alexis N; Barkley, Hannah; Rodriquez, Carissa; Burrow, T Andrew; Anderson, Karl E; Shukla, Ankita

Applying movement ecology models to comparative cognition experiments: a field test in hummingbirds

将运动生态学模型应用于比较认知实验:以蜂鸟为例的实地测试

Pritchard, David J; Hurly, T Andrew; Photopoulou, Theoni; Healy, Susan D

Pharmacokinetic interaction assessment of an HIV broadly neutralizing monoclonal antibody VRC07-523LS: a cross-protocol analysis of three phase 1 trials in people without HIV

对一种广谱中和HIV的单克隆抗体VRC07-523LS进行药代动力学相互作用评估:一项纳入三项I期临床试验的非HIV感染者交叉方案分析

Chawana, Tariro D; Walsh, Stephen R; Stranix-Chibanda, Lynda; Chirenje, Zvavahera M; Yu, Chenchen; Zhang, Lily; Seaton, Kelly E; Heptinstall, Jack; Zhang, Lu; Paez, Carmen A; Gamble, Theresa; Karuna, Shelly T; Andrew, Philip; Hanscom, Brett; Sobieszczyk, Magdalena E; Edupuganti, Srilatha; Gay, Cynthia L; Mannheimer, Sharon B; Hurt, Christopher B; Stephenson, Kathryn E; Polakowski, Laura L; Spiegel, Hans; Yacovone, Margaret; Regenold, Stephanie; Yen, Catherine; Baumblatt, Jane Ag; Gama, Lucio; Barouch, Dan H; Piwowar-Manning, Estelle; Koup, Richard A; Tomaras, Georgia D; Hyrien, Ollivier; Roxby, Alison C; Huang, Yunda

Evaluating Access to Neuropsychological Services for Individuals with Spina Bifida: Insights from the 2022 Provider Survey

评估脊柱裂患者获得神经心理服务的途径:来自 2022 年服务提供者调查的见解

Jordan, Lizabeth L; Costello, Rosalia; MacDonald, Beatriz; Heffelfinger, Amy; Jones, Erin F; Zabel, T Andrew; Queally, Jennifer T