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

Biallelic variants in RNU2-2 cause a remarkably frequent developmental and epileptic encephalopathy

RNU2-2基因的双等位基因变异会导致一种非常常见的发育性和癫痫性脑病。

Jackson, Adam; Blakes, Alexander J M; Alhaddad, Bader; Henry, Olivia J; Delgado-Vega, Angelica M; Wall, Elizabeth; Abdelhadi, Ola; Agrawal, Shakti; Bakur, Khadijah; Blair, Edward; Brady, Angela F; Brittain, Helen; Chandler, Kate E; Clarke, Natasha; Danelli, Miriana; Drinkall, Nicholas; Duba, Irene; Elmslie, Frances; Ellingford, Jamie; Ewans, Lisa J; Fennell, Andrew P; Gazdagh, Gabriella; Heller, Simon P; Hammarsjö, Anna; Karrman, Kristina; Kini, Usha; Lesko, Nicole; Lindstrand, Anna; Macintosh, Rebecca; Mansour, Sahar; Menzies, Lara; Metcalfe, Kay; Milhench, Alison; Nashef, Lina; O'Keefe, Raymond T; Pacheco, Nadja Pekkola; Palmer, Elizabeth E; Parida, Amitav; Prescott, Katrina; Redman, Melody; Renieri, Alessandra; Fallerini, Chiara; Rizzo, Caterina Lo; Sachdev, Rani; Simons, Cas; Sisodiya, Sanjay M; Stewart, Helen; Stödberg, Tommy; Banos-Pinero, Benito; Taylan, Fulya; Thomas, Huw B; Tinella, Flavia; Wiafe, Samuel; Wedell, Anna; Whiffin, Nicola; Walker, Susan; Rius, Rocio; Chae, Jong Hee; Nordgren, Ann; Alkuraya, Fowzan; Lord, Jenny; Banka, Siddharth

The genomic medicine center Karolinska 10-year report on genome sequencing for rare diseases and a strategy for stepwise clinical implementation

卡罗林斯卡基因组医学中心关于罕见病基因组测序的十年报告及分阶段临床实施策略

Lindstrand, Anna; Lagerstedt-Robinson, Kristina; Jemt, Anders; Kvarnung, Malin; Ygberg, Sofia; Vonlanthen, Sofie; Oscarson, Mikael; Nilsson, Daniel; Lesko, Nicole; Mantero, Angelo Salazar; Anderlid, Britt-Marie; Arnell, Henrik; Arthur, Cecilia; Bajalica-Lagercrantz, Svetlana; Barbaro, Michela; Bergman, Peter; Björck, Erik; Picard, Oda Blomqvist; Bruhn, Helene; Carlsten, Jonas; Correia, Sandrina P; De Geer, Karl; Delgado Vega, Angelica M; Ehn, Emma; Eisfeldt, Jesper; Ek, Marlene; Elvers, Ingegerd; Engvall, Martin; Freyer, Christoph; Frisk, Sofia; Graff, Caroline; Grigelioniené, Giedré; Gustafsson, Peter; Hammarsjö, Anna; Helgadottir, Hafdis T; Hellström Pigg, Maritta; Henry, Olivia J; Hägglund, Moa; Iwarsson, Erik; Janvid, Vincent; Soller, Maria Johansson; Sundin, Leif; Kuchinskaya, Ekaterina; Kämpe, Anders; Leinfelt, Anna; Liedén, Agne; Lindelöf, Hillevi; Lyander, Anna; Malmgren, Helena; Mannila, Maria; Marits, Per; Naess, Karin; Neethiraj, Ramprasad; Nyren, Karl; Pappas, Christoforos; Paucar, Martin; Pekkola Pacheco, Nadja; Peña Perez, Lucia; Pettersson, Maria; Pruisscher, Peter; Rasi, Chiara; Renevey, Annick; Rössner, Sophia; Sahlin, Ellika; Stenund, Erik; Stödberg, Tommy; Sundin, Mikael; Svärd, Karl; Tesi, Bianca; Tham, Emma; Thonberg, Håkan; Töhönen, Virpi; Ueberschär, Malin; Wallander, Karin; Westenius, Eini; Winberg, Johanna; Winblad, Nerges; Wincent, Josephine; Winerdal, Malin; Wredenberg, Anna; Zetterlund, Anna; Zetterström, Rolf H; Öfverholm, Ingegerd; Nordgren, Ann; Stranneheim, Henrik; Wirta, Valtteri; Wedell, Anna

Structural brain recovery following reductions in adolescent and young adult binge drinking: A longitudinal NCANDA study

青少年和青年酗酒减少后大脑结构恢复情况:一项NCANDA纵向研究

Gonzalez, Marybel R; Brumback, Ty; Wickershiem, Madison K; Sullivan, Edith V; Pfefferbaum, Adolf; Clark, Duncan B; Goldston, David B; Meloy, M J; Naber, Firas; Müller-Oehring, Eva M; Morales, Angelica M; Baker, Fiona C; Nooner, Kate B; Nagel, Bonnie J; Pohl, Kilian M; Sher, Kenneth J; Brown, Sandra A; Tapert, Susan F; Thompson, Wesley K

Prenatal glucocorticoid exposure programs long-term left ventricular metabolism, function, and remodeling in baboons

产前糖皮质激素暴露会影响狒狒左心室的长期代谢、功能和重塑。

Yang, Bowen; Adekunbi, Daniel A; Huber, Hillary F; Camones, Raechel; Li, Jinqi; Moody, Alexander J; Riojas, Angelica M; Li, Cun; Hall-Ursone, Shannan; Frost, Patrice; Register, Thomas C; Cox, Laura A; Nathanielsz, Peter W; Salmon, Adam B; Clarke, Geoffrey D

Chrysopogon zizanioides (Vetiver) Essential Oil from Qatar Targets AKT1 and STAT3 in Colorectal and Lung Cancer: GC-MS Profiling, In Vitro Antiproliferative Activity, and In Silico Analyses

来自卡塔尔的香根草(Chrysopogon zizanioides)精油靶向结直肠癌和肺癌中的AKT1和STAT3:GC-MS分析、体外抗增殖活性和计算机模拟分析

Karousa, Mai M; Kalath, Haritha; Karam, Layal; Suleman, Muhammad; Ayoub, Maha M; Fathima, Aseela; Rocha, M Angelica M; Mechmechani, Samah; Pinto, Diana C G A; Yassine, Hadi M; Shaito, Abdullah A

Surface Proteomic Analysis Reveals the Presence of Noncanonical Cell Membrane Endoplasmic Reticulum Chaperones in High-Grade Gliomas

表面蛋白质组学分析揭示高级别胶质瘤中存在非经典细胞膜内质网分子伴侣

Minchaca, Alexis Z; Bertoldo, Jean; Graber, Philipp; Bae, Dong-Hun; Jayatilleke, Nisitha; Mayoh, Chelsea; Stringer, Brett W; Ludlow, Louise; Kavallaris, Maria; Merlot, Angelica M

Clinical psychopathology-based early relapse prediction model using speech and language in psychosis

基于临床精神病理学的早期复发预测模型,利用精神病患者的言语和语言

Dalal, Tyler C; Park, Min Tae M; Silva, Angelica M; Iskhakova, Svetlana; Voppel, Alban; Brierley, Noah J; MacKinley, Michael; Olarewaju, Emmanuel; Palaniyappan, Lena

Challenges in community-based recruitment of Alzheimer's disease cases: Experience of the monitoring drug efficacy through multi-omics research initiative in Alzheimer's disease (MEMORI-AD) study

社区招募阿尔茨海默病病例的挑战:阿尔茨海默病多组学药物疗效监测研究计划 (MEMORI-AD) 的经验

Climacosa, Fresthel Monica M; Ornos, Eric David B; Diwa, Erwin Rommel S; Guantia, Mary Gale R; Qureshi, Almeera P; Gapaz, Nicole Clarence Louise L; Dacasin, Aira B; Asis, Joannes Luke B; Carampel, Ajina C; Dela Cruz, Angelica M; Gordovez, Francis James A; Reyes, John Carlo B; Tabios, Ian Kim B; Manalo, Rafael Vincent M; Cruz, Joana Marie C; Anlacan, Veeda Michelle M

Surgical Management of Substernal Goiters: A Systematic Review and Meta-Analysis

胸骨后甲状腺肿的外科治疗:系统评价和荟萃分析

Cheung, Matthew H; Walker, Angelica M; Nguyen, Shaun A; Butehorn, Hank; Albergotti, William G

Materials Employed in Preoperative Embolization for Nasopharyngeal Angiofibroma: A Meta-Analysis

鼻咽血管纤维瘤术前栓塞术中所用材料:一项荟萃分析

Patel, Pranav A; Walker, Angelica M; Nguyen, Shaun A; Schlosser, Rodney J; Curtis, Chandler J; Nanu, Douglas P; Bhat, Akash M; White, David