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

Off-the-shelf dual CAR-iNKT cell immunotherapy eradicates medullary and leptomeningeal high-risk KMT2A-rearranged leukemia

现成的双重CAR-iNKT细胞免疫疗法可根除髓质和软脑膜高危KMT2A重排白血病

Ren, Hongwei; Elliott, Natalina; Lye, Bryan; Sharif Shohan, Mohammad Umer; Cross, Joe W; Field, Lucy; Ponnusamy, Kanagaraju; Rice, Siobhan; Jackson, Thomas; Leontari, Ilia; El Ouazzani, Nouhad; Thomas, Rebecca; Inglott, Sarah; Bartram, Jack; Smith, Owen; Bond, Jonathan; Roberts, Irene A G; Halsey, Christina; Bashford-Rogers, Rachael; Milne, Thomas A; Roy, Anindita; Karadimitris, Anastasios

Heat waves and annual mortality among older adults (aged ≥65 years) in the USA

美国热浪与老年人(≥65岁)年死亡率

Healy, James P; Castro, Edgar; Danesh Yazdi, Mahdieh; Rice, Mary B; Chang, Howard; Steenland, Kyle; Wei, Yaguang; Schwartz, Joel D

Low forced vital capacity is associated with poor prognosis in physiologically stable non-IPF interstitial lung disease

低用力肺活量与生理稳定的非特发性肺纤维化间质性肺疾病预后不良相关。

Imai, Ryosuke; Bermea, Rene S; Zhao, Sophia H; Singh, Anjali; Synn, Andrew J; Flashner, Bess M; Munchel, Julia K; Rice, Mary B; Shea, Barry S; Hallowell, Robert W

Insights from a novel monogenic autoinflammatory disease: overview of a multicentric European cohort of 38 patients with COPA syndrome

来自一种新型单基因自身炎症性疾病的启示:一项包含38例COPA综合征患者的多中心欧洲队列研究概述

David, Clémence; Nathan, Nadia; Al-Abadi, Eslam; Arkwright, Peter D; Bader-Meunier, Brigitte; Becker, Sebastian; Belot, Alexandre; Brennan, Mary; Breton, Sylvain; Bondet, Vincent; Cadranel, Jacques; Coulomb l'Hermine, Aurore; De Almeida, Sébastien; Duffy, Darragh; Poch, Teresa Clavaguera; de Becdelièvre, Alix; El Khalifi-Boulisfane, Siham; Gattorno, Marco; Gispert-Saüch, Montse; Gothe, Florian; Hatchuel, Yves; Herdliczko, Daniela; Kilinc, Ayse Ayzit; Koucky, Vaclav; Labouret, Géraldine; Manna, Raffaele; Maillard, Hélène; Matoses Ruipérez, María Luisa; Matucci-Cerinic, Caterina; Mensa-Vilaro, Anna; Michel, Katarzyna; Molina, Thierry Jo; Lopez Montesinos, Berta; Newman, William G; Papenkort, Julia; Rapp, Christina; Rames, Cinthia; Rice, Gillian I; Rose, Markus A; Reumaux, Heloise; Sailler, Laurent; Schwerk, Nicolaus; Seabra, Luis; Sellam, Jérémie; Taddio, Andrea; Thumerelle, Caroline; Tommasini, Alberto; Tusseau, Maud; Volpi, Stefano; Wetzke, Martin; Weiss, Laurence; Welfringer-Morin, Anne; Wislez, Marie; Griese, Matthias; Crow, Yanick J; Frémond, Marie-Louise

Baseline Hemoglobin Level Does Not Modify the Effect of Oxygen Saturation Target on Outcomes for Critically Ill Adults Receiving Mechanical Ventilation

基线血红蛋白水平不影响氧饱和度目标对接受机械通气的危重成年患者预后的影响

Flemington, Alexandra B; Wang, Li; Casey, Jonathan D; Rice, Todd W; Semler, Matthew W; Qian, Edward T

A Developmentally Informed Study of Sleep and Circadian Polygenic Scores in Adolescence

一项基于发育信息的青少年睡眠和昼夜节律多基因评分研究

Lewis, Katie J S; Martin, Joanna; Heron, Jon; Riglin, Lucy; Rice, Frances; O'Donovan, Michael C; Gregory, Alice M

Disparities in childhood human capital investments in the United States

美国儿童时期人力资本投资的差异

Blazar, David; Boudreaux, Michel; Klees, Steven; Rice, Jennifer King; Titus, Marvin; Zhao, Jiehui

Stress vesicles link epidermal mechanotransduction to stem cell differentiation.

应力囊泡将表皮力学传导与干细胞分化联系起来。

Huang Sixia, Kuri Paola, Zou Jonathan, Blanco Adriana, Marshall Maxwell, Rice Gabriella, Prouty Stephen, Dentchev Tzvete, Doepner Miriam, Boerckel Joel D, Capell Brian C, Ridky Todd W, Rompolas Panteleimon

Immunotherapy Response in Microsatellite Instability-High Gastroesophageal Adenocarcinoma

微卫星不稳定性高型胃食管腺癌的免疫治疗反应

Okui, Jun; Prakash, Laura R; Lyu, Heather G; Morgan, Ryan B; Li, Jenny J; Blum-Murphy, Mariela A; Ajani, Jaffer A; Hofstetter, Wayne L; Rice, David C; Mansfield, Paul F; Swisher, Stephen G; Badgwell, Brian D; Ikoma, Naruhiko