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

Days Alive and at Home After Critical Illness Hospitalization Among Older Adults and Its Association With Delivery of In-Hospital Rehabilitation

老年人重症住院后居家存活天数及其与院内康复服务的关系

Kim, Stephanie; Murphy, Terrence E; O'Leary, John R Jr; Leo-Summers, Linda; Falvey, Jason R; Gill, Thomas M; Krumholz, Harlan M; Ferrante, Lauren E; Jain, Snigdha

Two Cases of Severe Insulin Resistance in Pregnancy: A New Diagnosis of INSR Variant and a Patient with SHORT Syndrome

妊娠期严重胰岛素抵抗两例:一例新诊断的INSR变异型和一例SHORT综合征患者

L'Amie, Abigail Katherine; Hall, Rosemary M; Bate, Julie; Cox, Stephanie; Murphy, Rinki

ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformations

ZSCAN10 缺陷会导致一种神经发育障碍,其特征是耳面部畸形。

Laugwitz, Lucia; Cheng, Fubo; Collins, Stephan C; Hustinx, Alexander; Navarro, Nicolas; Welsch, Simon; Cox, Helen; Hsieh, Tzung-Chien; Vijayananth, Aswinkumar; Buchert, Rebecca; Bender, Benjamin; Efthymiou, Stephanie; Murphy, David; Zafar, Faisal; Rana, Nuzhat; Grasshoff, Ute; Falb, Ruth J; Grimmel, Mona; Seibt, Annette; Zheng, Wenxu; Ghaedi, Hamid; Thirion, Marie; Couette, Sébastien; Azizimalamiri, Reza; Sadeghian, Saeid; Galehdari, Hamid; Zamani, Mina; Zeighami, Jawaher; Sedaghat, Alireza; Ramshe, Samira Molaei; Zare, Ali; Alipoor, Behnam; Klee, Dirk; Sturm, Marc; Ossowski, Stephan; Houlden, Henry; Riess, Olaf; Wieczorek, Dagmar; Gavin, Ryan; Maroofian, Reza; Krawitz, Peter; Yalcin, Binnaz; Distelmaier, Felix; Haack, Tobias B

Quantifying CSF Dynamics disruption in idiopathic normal pressure hydrocephalus using phase lag between transmantle pressure and volumetric flow rate

利用跨脑膜压力和体积流量之间的相位滞后量化特发性正常压力脑积水中脑脊液动力学紊乱

Karki, Pragalv; Sincomb, Stephanie; Murphy, Matthew C; Gunter, Jeffrey L; Senjem, Matthew L; Graff-Radford, Jonathan; Jones, David T; Botha, Hugo; Cutsforth-Gregory, Jeremy K; Elder, Benjamin D; Huston, John 3rd; Cogswell, Petrice M

Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia

SPTAN1单等位基因变异相关疾病不断扩展:从癫痫性脑病到纯痉挛性截瘫和共济失调

Morsy, Heba; Benkirane, Mehdi; Cali, Elisa; Rocca, Clarissa; Zhelcheska, Kristina; Cipriani, Valentina; Galanaki, Evangelia; Maroofian, Reza; Efthymiou, Stephanie; Murphy, David; O'Driscoll, Mary; Suri, Mohnish; Banka, Siddharth; Clayton-Smith, Jill; Wright, Thomas; Redman, Melody; Bassetti, Jennifer A; Nizon, Mathilde; Cogne, Benjamin; Jamra, Rami Abu; Bartolomaeus, Tobias; Heruth, Marion; Krey, Ilona; Gburek-Augustat, Janina; Wieczorek, Dagmar; Gattermann, Felix; Mcentagart, Meriel; Goldenberg, Alice; Guyant-Marechal, Lucie; Garcia-Moreno, Hector; Giunti, Paola; Chabrol, Brigitte; Bacrot, Severine; Buissonnière, Roger; Magry, Virginie; Gowda, Vykuntaraju K; Srinivasan, Varunvenkat M; Melegh, Béla; Szabó, András; Sümegi, Katalin; Cossée, Mireille; Ziff, Monica; Butterfield, Russell; Hunt, David; Bird-Lieberman, Georgina; Hanna, Michael; Koenig, Michel; Stankewich, Michael; Vandrovcova, Jana; Houlden, Henry

Biallelic missense variants in COG3 cause a congenital disorder of glycosylation with impairment of retrograde vesicular trafficking

COG3基因的双等位基因错义变异会导致先天性糖基化障碍,并伴有逆行囊泡运输受损。

Duan, Ruizhi; Marafi, Dana; Xia, Zhi-Jie; Ng, Bobby G; Maroofian, Reza; Sumya, Farhana Taher; Saad, Ahmed K; Du, Haowei; Fatih, Jawid M; Hunter, Jill V; Elbendary, Hasnaa M; Baig, Shahid M; Abdullah, Uzma; Ali, Zafar; Efthymiou, Stephanie; Murphy, David; Mitani, Tadahiro; Withers, Marjorie A; Jhangiani, Shalini N; Coban-Akdemir, Zeynep; Calame, Daniel G; Pehlivan, Davut; Gibbs, Richard A; Posey, Jennifer E; Houlden, Henry; Lupashin, Vladimir V; Zaki, Maha S; Freeze, Hudson H; Lupski, James R

Evolving strategy for an evolving virus: Development of real-time PCR assays for detecting all SARS-CoV-2 variants of concern

病毒进化的进化策略:开发用于检测所有值得关注的 SARS-CoV-2 变体的实时 PCR 检测方法

Kanti Pabbaraju, Nathan Zelyas, Anita Wong, Matthew A Croxen, Tarah Lynch, Emily Buss, Stephanie Murphy, Sandy Shokoples, Jamil Kanji, Graham Tipples

Asymmetric cell division promotes therapeutic resistance in glioblastoma stem cells

不对称细胞分裂促进胶质母细胞瘤干细胞治疗耐药性

Masahiro Hitomi, Anastasia P Chumakova, Daniel J Silver, Arnon M Knudsen, W Dean Pontius, Stephanie Murphy, Neha Anand, Bjarne W Kristensen, Justin D Lathia

Effects of triheptanoin (UX007) in patients with long-chain fatty acid oxidation disorders: Results from an open-label, long-term extension study

三庚酸甘油酯 (UX007) 对长链脂肪酸氧化障碍患者的影响:一项开放标签、长期扩展研究的结果

Vockley, Jerry; Burton, Barbara; Berry, Gerard; Longo, Nicola; Phillips, John; Sanchez-Valle, Amarilis; Chapman, Kimberly; Tanpaiboon, Pranoot; Grunewald, Stephanie; Murphy, Elaine; Lu, Xiaoxiao; Cataldo, Jason

Impact of Limited Health Literacy on Patient-Reported Outcomes in Systemic Lupus Erythematosus

健康素养不足对系统性红斑狼疮患者报告结局的影响

Katz, Patricia; Dall'Era, Maria; Trupin, Laura; Rush, Stephanie; Murphy, Louise B; Lanata, Cristina; Criswell, Lindsey A; Yazdany, Jinoos