未登录Untargeted proteomics enables ultra-rapid variant prioritisation in mitochondrial and other rare diseases非靶向蛋白质组学实现了线粒体疾病和其他罕见疾病的超快速变异优先级排序
Hock, Daniella H.; Caruana, Nikeisha J.; Semcesen, Liana N.; Lake, Nicole J.; Formosa, Luke E.; Amarasekera, Sumudu S. C.; Stait, Tegan; Tregoning, Simone; Frajman, Leah E.; Bournazos, Adam M.; Robinson, David R. L.; Ball, Megan; Reljic, Boris; Ryder, Bryony; Wallis, Mathew J.; Vasudevan, Anand; Beck, Cara; Peters, Heidi; Lee, Joy; Tan, Natalie B.; Freckmann, Mary-Louise; Attard, Chantal; Monagle, Paul; Samarasinghe, Amanda; Brown, Rosie; Bi, Weimin; Lek, Monkol; McFarland, Robert; Taylor, Robert W.; Ryan, Michael T.; Cooper, Sandra T.; Stark, Zornitza; Christodoulou, John; Compton, Alison G.; Thorburn, David R.; Stroud, David A. .png)
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收藏Understanding speech and language in KIF1A-associated neurological disorder理解KIF1A相关神经障碍中的言语和语言Morison, Lottie D.; Vogel, Adam P.; Christodoulou, John; Gold, Wendy A.; Verden, Dylan; Chung, Wendy K.; Braden, Ruth; Bredebusch, Joanna; Kaur, Simranpreet; Scheffer, Ingrid E.; Morgan, Angela T. 分享 收藏 分享 收藏 分享 收藏 分享 收藏 Dismantling barriers to research and clinical care for individuals with a vision impairment消除视力受损个体在研究和临床护理方面的障碍Robertson, Eden G.; Hetherington, Kate; Prain, Meredith; Hall, Julia; Boyd Am, Leighton; Boyd Oam, Rosemary; Shepard, Emily; Feller, Hollie; Karandrews, Sally; O'Hare, Fleur; Yamamoto, Kanae; Simunovic, Matthew P.; Jamieson, Robyn, V; Ma, Alan; Am, Lauren Ayton; Gonzalez-Cordero, Anai 分享 收藏 分享 收藏 Can proteomics predict metastatic relapse in leiomyosarcoma (LMS)? Development of an 8 protein signature in a >350 sample study including a validation cohort蛋白质组学能否预测子宫平滑肌肉瘤（LMS）的转移复发？一项包含验证队列的>350样本研究中的8蛋白标志物的开发Connolly, E. A.; Bucio-Noble, D.; Cai, S.; Singh, A.; Koh, J.; Karim, R.; Lazar, A.; Lim, R.; Morey, R.; Ratnayake, G.; Hains, P.; Ye, L.; Ingram, D.; Scott, C. L.; Robinson, P. J.; Barker, H.; Haddad, E. F. Nassif; Horvath, L. G.; Grimison, P.; Reddel, R. 分享 收藏 
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