未登录 Coupling deep phenotypic quantification with next-generation phenotyping for 192 individuals with germline histonopathies 将深度表型量化与下一代表型分析相结合，对192名具有生殖系组蛋白病的个体进行研究 Lubin, Emily E.; Gonzalez, Elizabeth M.; Sangree, Annabel K.; Durham, Emily L.; Klinkhammer, Hannah; Li, Jing-Mei; Smith, Sarina M.; Layo-Carris, Dana E.; Clark, Kelly J.; Melendez-Perez, Ashley J.; Wang, Xiao Min; Angireddy, Rajesh; Weiss, Erin E.; Barakat, Tahsin Stefan; Mercier, Sandra; Cogne, Benjamin; Koene, Saskia; Hilhorst-Hofstee, Yvonne; Rydzanicz, Malgorzata; Ploski, Rafal; Cano, Maria de los Gomez; Palomares-Bralo, Maria; Arevalo, Tania Barragan; Tan, Tiong Yang; Gallacher, Lyndon; MacFarland, Suzanne P.; Ahrens-Nicklas, Rebecca C.; Nomakuchi, Tomoki T.; Bhoj, Elizabeth J. K. 分享 收藏
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Ophthalmic ultrasonography can identify retinal injury associated with abusive head trauma more quickly and accurately than other neuroimaging modalities 眼科超声检查比其他神经影像学方法能更快、更准确地识别与虐待性头颅创伤相关的视网膜损伤。 Riggs, Becky J.; Hwang, Misun; Cohen, Joanna S.; Barton, Katherine; Thimm, Matthew A.; Hunt, Megan F.; Trimboli-Heidler, Carmelina; Valvano, Thomas J.; Kraus, Courtney L.; Dean, Nathan P.; Tekes, Aylin 分享 收藏
Reporting ABCD1 variants as actionable secondary findings on exome and genome sequencing 将ABCD1基因变异作为可操作的次级发现报告在全外显子组和全基因组测序中 Gonzalez, Carlos A. Dominguez; Spinner, Nancy B.; Ahrens-Nicklas, Rebecca C.; Young, Lisa R.; Voss, Laura A.; Reichert, Sara L.; Gallo, Daniel J.; Cohen, Julie S.; Bonkowsky, Joshua L.; Keller, Stephanie R.; Bennett, Mariko L.; Pizzino, Amy M.; Swantkowski, Meghan; Arnold, Kaley; Fraser, Jamie L.; Emerson, Felicity J.; Miettunen, Kelly; Fatemi, Ali; Haren, Keith P. Van; Adang, Laura; Waldman, Amy; Emrick, Lisa; Eichler, Florian; Vanderver, Adeline 分享 收藏
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Patterns of Use and Benefit of Triptans in the Treatment of Acute Headache Worsening in Youth With Post-Traumatic Headache 创伤后头痛青年患者急性头痛恶化治疗中曲坦类药物的使用模式与获益。 Shah, Ryan; Das, Soumyaa; Kruse, Caroline F. Gentile; de Prado, Blanca Marquez; Raj, Nichelle; Evans, Morgan; Panigrahi, Pratishtha; Hershey, Andrew D.; Master, Christina L.; Szperka, Christina L.; Gentile, Carlyn Patterson 分享 收藏
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Clinical signatures of SYNGAP1-related disorders through data integration SYNGAP1相关疾病的临床特征通过数据整合研究 McKee, Jillian L.; Magielski, Jan H.; Xian, Julie; Cohen, Stacey; Toib, Jonathan; Harrison, Alicia; Chen, Chen; Kim, Dan; Rathod, Aakash; Brimble, Elise; Fitter, Nasha; Graglia, J. Michael; Helde, Kathryn A.; Ruggiero, Sarah McKeown; Boland, Michael J.; Prosser, Benjamin L.; Sederman, Rob; Helbig, Ingo 分享 收藏
Effect of bevacizumab on non-target intracranial meningiomas and non-vestibular schwannomas in NF2-related schwannomatosis: NF104 贝伐单抗对NF2相关性神经鞘瘤病中非靶点颅内脑膜瘤和非前庭神经鞘瘤的影响：NF104 Nakhate, Vihang; Ly, Ina; Muzikansky, Alona; Rapalino, Otto; Allen, Jeffrey C.; Blakeley, Jaishri O.; Campian, Jian L.; Clapp, D. Wade; Dhall, Girish; Jain, Rakesh K.; Karajannis, Matthias A.; Packer, Roger J.; Tonsgard, James; Ullrich, Nicole J.; Korf, Bruce R.; Fisher, Michael J.; Plotkin, Scott R.; Neurofibromatosis Clinical Trials Consortium 分享 收藏
Novel heterozygous SPI1c.538C>T p.(Leu180Phe) variant causes PU.1 haploinsufficiency leading to agammaglobulinemia 新型杂合SPI1c.538C>T p.(Leu180Phe)变异导致PU.1单倍剂量不足，进而引发无丙种球蛋白血症。 Daddali, Ravindra; Kettunen, Kaisa; Turunen, Tanja; Knox, Ainsley V. C.; Laine, Pia; Chowdhury, Iftekhar; Vanttinen, Markku; Mamia, Nanni; Stiegler, Amy L.; Boggon, Titus J.; Kere, Juha; Romberg, Neil; Seppanen, Mikko R. J.; Varjosalo, Markku; Martelius, Timi; Gronholm, Juha 分享 收藏
Clinical Practice Guideline: Surgical Management of Chronic Rhinosinusitis 临床实践指南：慢性鼻窦炎的外科管理 Shin, Jennifer J.; Wilson, Meghan; McKenna, Margo; Rosenfeld, Richard; Ammon, Kathryn; Crosby, Dana; Fuchs, Jonathan M.; Hensler, Jason Blakeley; Illing, Elisa A.; Lam, Kent; Levine, Corinna; Kmucha, Steven T.; McCoul, Edward D.; Miller, Jessa; Rodriguez, Kenneth; Rowan, Nicholas R.; Sedaghat, Ahmad R.; Tan, Bruce K.; Roy, Emma; Dhepyasuwan, Nui 分享 收藏
Proteomic surveys of the mouse heart unveil cardiovascular responses to nitric oxide/cGMP signaling deficiencies 小鼠心脏的蛋白质组学调查揭示了心血管系统对一氧化氮/cGMP信号缺陷的反应 Mohanty, Ipsita; Fazelinia, Hossein; Raimo, Serena; Ding, Hua; Spruce, Lynn; Symeonidou, Maria; Tenopoulou, Margarita; Ichinose, Fumito; Yamashita, Hirotaka; Shimokawa, Hiroaki; Masato, Tsutsui; Doulias, Paschalis-Thomas; Ischiropoulos, Harry 分享 收藏
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