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

"I'm quite proud of how we've handled it": health professionals' experiences of returning additional findings from the 100,000 genomes project

“我对我们处理这件事的方式感到非常自豪”:卫生专业人员分享从“十万基因组计划”中获得额外发现的经验

Stafford-Smith, Bethany; Gurasashvili, Jana; Peter, Michelle; Daniel, Morgan; Balasubramanian, Meena; Bownass, Lucy; Brennan, Paul; Cleaver, Ruth; Clowes, Virginia; Costello, Philandra; DeSouza, Bianca; Dubois, Louise; Harrison, Rachel; Hawkes, Lara; Jones, Elizabeth A; Kraus, Alison; McEntagart, Meriel; Somarathi, Suresh; Taylor, Amy; Tripathi, Vishakha; Chitty, Lyn S; Hill, Melissa

Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design

对 ITPR1 错义变异的详细分析指导诊断和治疗方案设计

Tolonen, Jussi Pekka; Parolin Schnekenberg, Ricardo; McGowan, Simon; Sims, David; McEntagart, Meriel; Elmslie, Frances; Shears, Debbie; Stewart, Helen; Tofaris, George K; Dabir, Tabib; Morrison, Patrick J; Johnson, Diana; Hadjivassiliou, Marios; Ellard, Sian; Shaw-Smith, Charles; Znaczko, Anna; Dixit, Abhijit; Suri, Mohnish; Sarkar, Ajoy; Harrison, Rachel E; Jones, Gabriela; Houlden, Henry; Ceravolo, Giorgia; Jarvis, Joanna; Williams, Jonathan; Shanks, Morag E; Clouston, Penny; Rankin, Julia; Blumkin, Lubov; Lerman-Sagie, Tally; Ponger, Penina; Raskin, Salmo; Granath, Katariina; Uusimaa, Johanna; Conti, Hector; McCann, Emma; Joss, Shelagh; Blakes, Alexander J M; Metcalfe, Kay; Kingston, Helen; Bertoli, Marta; Kneen, Rachel; Lynch, Sally Ann; Martínez Albaladejo, Inmaculada; Moore, Austen Peter; Jones, Wendy D; Becker, Esther B E; Németh, Andrea H

Social learning is triggered by environmental cues in immigrant birds

迁徙鸟类的社会学习是由环境线索触发的。

Harrison, Rachel A

Dominant stop-loss HNRNPA1 variants in juvenile-onset myopathy

青少年发病型肌病中显性终止密码子HNRNPA1变异

Turner, Johnnie; Bruels, Christine C; Daugherty, Audrey L; Estrella, Elicia A; Stafki, Seth; Syeda, Safoora B; Littel, Hannah R; Pais, Lynn; Ganesh, Vijay S; Lidov, Hart G W; Paine, Simon M L; Maddison, Paul; Harrison, Rachel E; Straub, Volker; Ghosh, Partha S; Pacak, Christina A; Kunkel, Louis M; Draper, Isabelle; Topf, Ana; Kang, Peter B

Cancer Precision-Prevention trial of Metformin in adults with Li Fraumeni syndrome (MILI) undergoing yearly MRI surveillance: a randomised controlled trial protocol

针对接受年度 MRI 监测的 Li-Fraumeni 综合征 (MILI) 成年患者,二甲双胍用于癌症精准预防的试验:一项随机对照试验方案

Dixon-Zegeye, Miriam; Shaw, Rachel; Collins, Linda; Perez-Smith, Kendra; Ooms, Alexander; Qiao, Maggie; Pantziarka, Pan; Izatt, Louise; Tischkowitz, Marc; Harrison, Rachel E; George, Angela; Woodward, Emma R; Lord, Simon; Hawkes, Lara; Evans, D Gareth; Franklin, James; Hanson, Helen; Blagden, Sarah P

Behavioral Nudging With Generative AI for Content Development in SMS Health Care Interventions: Case Study

利用生成式人工智能进行行为引导以开发短信医疗保健干预内容:案例研究

Harrison, Rachel M; Lapteva, Ekaterina; Bibin, Anton

Large-scale evaluation of outcomes after a genetic diagnosis in children with severe developmental disorders

对患有严重发育障碍的儿童进行基因诊断后的大规模结果评估

Copeland, Harriet; Low, Karen J; Wynn, Sarah L; Ahmed, Ayesha; Arthur, Victoria; Balasubramanian, Meena; Bennett, Katya; Berg, Jonathan; Bertoli, Marta; Bryson, Lisa; Bucknall, Catrin; Campbell, Jamie; Chandler, Kate; Chauhan, Jaynee; Clarkson, Amy; Coles, Rachel; Conti, Hector; Costello, Philandra; Coupar, Tessa; Craig, Amy; Dean, John; Dillon, Amy; Dixit, Abhijit; Drew, Kathryn; Eason, Jacqueline; Forzano, Francesca; Foulds, Nicola; Gardham, Alice; Ghali, Neeti; Green, Andrew; Hanna, William; Harrison, Rachel; Hegarty, Mairead; Higgs, Jenny; Holder, Muriel; Irving, Rachel; Jain, Vani; Johnson, Katie; Jolley, Rachel; Jones, Wendy D; Jones, Gabriela; Joss, Shelagh; Kalinauskiene, Ruta; Kanani, Farah; Kavanagh, Karl; Khan, Mahmudur; Khan, Naz; Kivuva, Emma; Lahiri, Nayana; Lakhani, Neeta; Lampe, Anne; Lynch, Sally Ann; Mansour, Sahar; Marsden, Alice; Massey, Hannah; McKee, Shane; Mohammed, Shehla; Naik, Swati; Nesarajah, Mithushanaa; Newbury-Ecob, Ruth; Osborne, Fiona; Parker, Michael J; Patterson, Jenny; Pottinger, Caroline; Prapa, Matina; Prescott, Katrina; Quinn, Shauna; Radley, Jessica A; Robart, Sarah; Ross, Alison; Rosti, Giulia; Sansbury, Francis H; Sarkar, Ajoy; Searle, Claire; Shannon, Nora; Shears, Debbie; Smithson, Sarah; Stewart, Helen; Suri, Mohnish; Tadros, Shereen; Theobald, Rachel; Thomas, Rhian; Tsoulaki, Olga; Vasudevan, Pradeep; Rodriguez, Maribel Verdesoto; Vittery, Emma; Whyte, Sinead; Woods, Emily; Wright, Thomas; Zocche, David; Firth, Helen V; Wright, Caroline F

Collective knowledge and the dynamics of culture in chimpanzees

黑猩猩的集体知识和文化动态

Whiten, Andrew; Harrison, Rachel A; McGuigan, Nicola; Vale, Gillian L; Watson, Stuart K

Bisphosphonate Treatment Alters the Skeletal Response to Mechanical Stimulation in Children With Osteogenesis Imperfecta: A Pilot Study

双膦酸盐治疗会改变成骨不全患儿对机械刺激的骨骼反应:一项初步研究

Sithambaran, Siva; Harrison, Rachel; Gopal-Kothandapandi, Sujatha; Rigby, Alan; Bishop, Nick

Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data

利用DECIPHER数据识别先天性膈疝附加症(CDH+)的表型扩展

Hardcastle, Amy; Berry, Aliska M; Campbell, Ian M; Zhao, Xiaonan; Liu, Pengfei; Gerard, Amanda E; Rosenfeld, Jill A; Sisoudiya, Saumya D; Hernandez-Garcia, Andres; Loddo, Sara; Di Tommaso, Silvia; Novelli, Antonio; Dentici, Maria L; Capolino, Rossella; Digilio, Maria C; Graziani, Ludovico; Rustad, Cecilie F; Neas, Katherine; Ferrero, Giovanni B; Brusco, Alfredo; Di Gregorio, Eleonora; Wellesley, Diana; Beneteau, Claire; Joubert, Madeleine; Van Den Bogaert, Kris; Boogaerts, Anneleen; McMullan, Dominic J; Dean, John; Giuffrida, Maria G; Bernardini, Laura; Varghese, Vinod; Shannon, Nora L; Harrison, Rachel E; Lam, Wayne W K; McKee, Shane; Turnpenny, Peter D; Cole, Trevor; Morton, Jenny; Eason, Jacqueline; Jones, Marilyn C; Hall, Rebecca; Wright, Michael; Horridge, Karen; Shaw, Chad A; Chung, Wendy K; Scott, Daryl A