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

De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa

U4 和 U6 snRNA 基因的新生突变和遗传性显性突变会导致视网膜色素变性。

Quinodoz, Mathieu; Rodenburg, Kim; Cvackova, Zuzana; Kaminska, Karolina; de Bruijn, Suzanne E; Iglesias-Romero, Ana Belén; Boonen, Erica G M; Ullah, Mukhtar; Zomer, Nick; Folcher, Marc; Bijon, Jacques; Holtes, Lara K; Tsang, Stephen H; Corradi, Zelia; Freund, K Bailey; Shliaga, Stefanida; Panneman, Daan M; Hitti-Malin, Rebekkah J; Ali, Manir; AlTalbishi, Ala'a; Andréasson, Sten; Ansari, Georg; Arno, Gavin; Astuti, Galuh D N; Ayuso, Carmen; Ayyagari, Radha; Banfi, Sandro; Banin, Eyal; Barakat, Tahsin Stefan; Barboni, Mirella T S; Bauwens, Miriam; Ben-Yosef, Tamar; Bernard, Virginie; Birch, David G; Biswas, Pooja; Blanco-Kelly, Fiona; Bocquet, Beatrice; Boon, Camiel J F; Branham, Kari; Bremond-Gignac, Dominique; Britten-Jones, Alexis Ceecee; Bujakowska, Kinga M; Burin des Roziers, Cyril; Cadena, Elizabeth L; Calzetti, Giacomo; Cancellieri, Francesca; Cattaneo, Luca; Chadderton, Naomi; Charbel Issa, Peter; Coutinho-Santos, Luísa; Daiger, Stephen P; De Baere, Elfride; De Bruyne, Marieke; de la Cerda, Berta; De Roach, John N; De Zaeytijd, Julie; Derks, Ronny; Dhaenens, Claire-Marie; Dudakova, Lubica; Duncan, Jacque L; Farrar, G Jane; Feltgen, Nicolas; Fenner, Beau J; Fernández-Caballero, Lidia; Ferraz Sallum, Juliana M; Gana, Simone; Garanto, Alejandro; Gardner, Jessica C; Gilissen, Christian; Gonzàlez-Duarte, Roser; Goto, Kensuke; Griffiths-Jones, Sam; Haack, Tobias B; Haer-Wigman, Lonneke; Hardcastle, Alison J; Hayashi, Takaaki; Héon, Elise; Hoefsloot, Lies H; Hoischen, Alexander; Holtan, Josephine P; Hoyng, Carel B; Ibanez, Manuel Benjamin B 4th; Inglehearn, Chris F; Iwata, Takeshi; Jensson, Brynjar O; Jones, Kaylie; Kalatzis, Vasiliki; Kamakari, Smaragda; Karali, Marianthi; Kellner, Ulrich; Klaver, Caroline C W; Knézy, Krisztina; Koenekoop, Robert K; Kohl, Susanne; Kominami, Taro; Kühlewein, Laura; Lamey, Tina M; Leibu, Rina; Leroy, Bart P; Liskova, Petra; Lopez, Irma; López-Rodríguez, Victor R de J; Mahieu, Quinten; Mahroo, Omar A; Manes, Gaël; Mansard, Luke; Martín-Gutiérrez, M Pilar; Martins, Nelson; Mauring, Laura; McKibbin, Martin; McLaren, Terri L; Meunier, Isabelle; Michaelides, Michel; Millán, José M; Mizobuchi, Kei; Mukherjee, Rajarshi; Nagy, Zoltán Zsolt; Neveling, Kornelia; Ołdak, Monika; Oorsprong, Michiel; Pan, Yang; Papachristou, Anastasia; Percesepe, Antonio; Pfau, Maximilian; Pierce, Eric A; Place, Emily; Ramesar, Raj; Ramond, Francis; Rasquin, Florence Andrée; Rice, Gillian I; Roberts, Lisa; Rodríguez-Hidalgo, María; Ruiz-Ederra, Javier; Sabir, Ataf H; Sajiki, Ai Fujita; Sánchez-Barbero, Ana Isabel; Sarma, Asodu Sandeep; Sangermano, Riccardo; Santos, Cristina M; Scarpato, Margherita; Scholl, Hendrik P N; Sharon, Dror; Signorini, Sabrina G; Simonelli, Francesca; Sousa, Ana Berta; Stefaniotou, Maria; Stefansson, Kari; Stingl, Katarina; Suga, Akiko; Sulem, Patrick; Sullivan, Lori S; Szabó, Viktória; Szaflik, Jacek P; Taurina, Gita; Thiadens, Alberta A H J; Toomes, Carmel; Tran, Viet H; Tsilimbaris, Miltiadis K; Tsoka, Pavlina; Vaclavik, Veronika; Vajter, Marie; Valeina, Sandra; Valente, Enza Maria; Valentine, Casey; Valero, Rebeca; Valleix, Sophie; van Aerschot, Joseph; van den Born, L Ingeborgh; Van Heetvelde, Mattias; Verhoeven, Virginie J M; Vincent, Andrea L; Webster, Andrew R; Whelan, Laura; Wissinger, Bernd; Yioti, Georgia G; Yoshitake, Kazutoshi; Zenteno, Juan C; Zeuli, Roberta; Zuleger, Theresia; Landau, Chaim; Jacob, Allan I; Lin, Siying; Cremers, Frans P M; Lee, Winston; Ellingford, Jamie M; Stanek, David; Roosing, Susanne; Rivolta, Carlo

Thrombomodulin protects against acute vascular and multiorgan injury in sickle cell disease.

血栓调节蛋白可保护镰状细胞病患者免受急性血管损伤和多器官损伤。

Ren Guohui, Fraidenburg Dustin R, Setty Suman, Chen Jiwang, Gonzales Janae, Ruiz Maria Armila, Ivy Zalaya, Eskandari Najmeh, Minshall Richard D, Lash James P, Gordeuk Victor R, Saraf Santosh L

The influence of peer navigators on intervention adherence and retention among older adults: A study within a randomized trial - SWAT

同伴导航员对老年人干预依从性和保持率的影响:一项随机试验中的研究 - SWAT

Runge, Shannon K; Hudak, Elizabeth M; Sutfin, Jade A; Dobrovolskiy, Victor R; Edwards, Jerri D

Spatial navigation as a digital marker for clinically differentiating cognitive impairment severity

空间导航作为临床区分认知障碍严重程度的数字标记

Colombo, Giorgio; Minta, Karolina; Taylor, William R; Grübel, Jascha; Chong, Eddie; Chong, Joyce R; Lim, Mark J H; Gonzales, Paul Nichol G; Lai, Mitchell K P; Chen, Christopher P; Schinazi, Victor R

Whole genome sequencing analysis of body mass index identifies novel African ancestry-specific risk allele

通过对体重指数进行全基因组测序分析,发现了一种新的非洲血统特异性风险等位基因。

Zhang, Xinruo; Brody, Jennifer A; Graff, Mariaelisa; Highland, Heather M; Chami, Nathalie; Xu, Hanfei; Wang, Zhe; Ferrier, Kendra R; Chittoor, Geetha; Josyula, Navya Shilpa; Meyer, Mariah; Gupta, Shreyash; Li, Xihao; Li, Zilin; Allison, Matthew A; Becker, Diane M; Bielak, Lawrence F; Bis, Joshua C; Boorgula, Meher Preethi; Bowden, Donald W; Broome, Jai G; Buth, Erin J; Carlson, Christopher S; Chang, Kyong-Mi; Chavan, Sameer; Chiu, Yen-Feng; Chuang, Lee-Ming; Conomos, Matthew P; DeMeo, Dawn L; Du, Mengmeng; Duggirala, Ravindranath; Eng, Celeste; Fohner, Alison E; Freedman, Barry I; Garrett, Melanie E; Guo, Xiuqing; Haiman, Chris; Heavner, Benjamin D; Hidalgo, Bertha; Hixson, James E; Ho, Yuk-Lam; Hobbs, Brian D; Hu, Donglei; Hui, Qin; Hwu, Chii-Min; Jackson, Rebecca D; Jain, Deepti; Kalyani, Rita R; Kardia, Sharon L R; Kelly, Tanika N; Lange, Ethan M; LeNoir, Michael; Li, Changwei; Le Marchand, Loic; McDonald, Merry-Lynn N; McHugh, Caitlin P; Morrison, Alanna C; Naseri, Take; O'Connell, Jeffrey; O'Donnell, Christopher J; Palmer, Nicholette D; Pankow, James S; Perry, James A; Peters, Ulrike; Preuss, Michael H; Rao, D C; Regan, Elizabeth A; Reupena, Sefuiva M; Roden, Dan M; Rodriguez-Santana, Jose; Sitlani, Colleen M; Smith, Jennifer A; Tiwari, Hemant K; Vasan, Ramachandran S; Wang, Zeyuan; Weeks, Daniel E; Wessel, Jennifer; Wiggins, Kerri L; Wilkens, Lynne R; Wilson, Peter W F; Yanek, Lisa R; Yoneda, Zachary T; Zhao, Wei; Zöllner, Sebastian; Arnett, Donna K; Ashley-Koch, Allison E; Barnes, Kathleen C; Blangero, John; Boerwinkle, Eric; Burchard, Esteban G; Carson, April P; Chasman, Daniel I; Ida Chen, Yii-Der; Curran, Joanne E; Fornage, Myriam; Gordeuk, Victor R; He, Jiang; Heckbert, Susan R; Hou, Lifang; Irvin, Marguerite R; Kooperberg, Charles; Minster, Ryan L; Mitchell, Braxton D; Nouraie, Mehdi; Psaty, Bruce M; Raffield, Laura M; Reiner, Alexander P; Rich, Stephen S; Rotter, Jerome I; Benjamin Shoemaker, M; Smith, Nicholas L; Taylor, Kent D; Telen, Marilyn J; Weiss, Scott T; Zhang, Yingze; Heard-Costa, Nancy; Sun, Yan V; Lin, Xihong; Cupples, L Adrienne; Lange, Leslie A; Liu, Ching-Ti; Loos, Ruth J F; North, Kari E; Justice, Anne E

Tumor cell-based liquid biopsy using high-throughput microfluidic enrichment of entire leukapheresis product

利用高通量微流体富集整个白细胞分离术产品进行基于肿瘤细胞的液体活检

Avanish Mishra #, Shih-Bo Huang #, Taronish Dubash, Risa Burr, Jon F Edd, Ben S Wittner, Quinn E Cunneely, Victor R Putaturo, Akansha Deshpande, Ezgi Antmen, Kaustav A Gopinathan, Keisuke Otani, Yoshiyuki Miyazawa, Ji Eun Kwak, Sara Y Guay, Justin Kelly, John Walsh, Linda T Nieman, Isabella Galler, 

VHL, transferrin, and erythropoietin in the regulation of hepcidin

VHL、转铁蛋白和促红细胞生成素在铁调素调节中的作用

Sergeev, Ivan; Prchal, Josef T; Nouraie, Seyed Mehdi; Shah, Binal N; Zhang, Xu; Sergueeva, Adelina; Miasnikova, Galina; Ganz, Tomas; Gordeuk, Victor R

Observational study for multiparametric assessment of cardiac congestion in outpatient worsening heart failure (EVOLUTION)

门诊恶化心力衰竭患者心脏充血多参数评估观察性研究(EVOLUTION)

Cotter, Gad; Davison, Beth; Janiak, Philip; Edwards, Christopher; Novosadova, Maria; Takagi, Koji; Ozoux, Marie-Laure; Lawson, Francesca; Hayrapetyan, Hamlet; Sisakian, Hamayak; Ter-Grigoryan, Victor R; Peoc'h, Katell; Raynor, Alexandre; Bruzeau, Paul; Nguyen, Alexis; Mebazaa, Alexandre

Factors Associated with Disease Progression after Discontinuation of Immune Checkpoint Inhibitors for Immune-Related Toxicity in Patients with Advanced Non-Small Cell Lung Cancer

晚期非小细胞肺癌患者因免疫相关毒性停用免疫检查点抑制剂后疾病进展的相关因素

Pecci, Federica; Thummalapalli, Rohit; Alden, Stephanie L; Ricciuti, Biagio; Alessi, Joao V; Elkrief, Arielle; Rizvi, Hira; Wang, Xinan; Jeng, Mark; Egger, Jacklynn V; Vaz, Victor R; Barrichello, Adriana; Lamberti, Giuseppe; Di Federico, Alessandro; Santo, Valentina; Rossato de Almeida, Guilherme; Gandhi, Malini; Clark, Phoebe; Nishino, Mizuki; Johnson, Bruce E; Hellmann, Matthew; Schoenfeld, Adam J; Awad, Mark M

Triplet Vinylidenes Based on (Benz)imidazole and 1,2,3-Triazole N‑Heterocycles

基于(苯并)咪唑和1,2,3-三唑N-杂环的三重态亚乙烯基

Kutin, Yury; Reitz, Justus; Drosou, Maria; Antoni, Patrick W; He, Yijie; Selve, Victor R; Boschmann, Sergius; Savitsky, Anton; Pantazis, Dimitrios A; Kasanmascheff, Müge; Hansmann, Max M