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

Hemodialysis Facilities, Vascular Access Surgeons, and Central Venous Catheter Use: A Retrospective Cohort Study

血液透析中心、血管通路外科医生和中心静脉导管使用:一项回顾性队列研究

Bailoor, Kunal; Oerline, Mary K; Gurnani, Sunayna; Guro, Paula; Hirth, Richard A; Hollingsworth, John M; Shahinian, Vahakn B

Cleavage of the Meckel-Gruber syndrome protein TMEM67 by ADAMTS9 uncouples Wnt signaling and ciliogenesis.

ADAMTS9 对 Meckel-Gruber 综合征蛋白 TMEM67 的切割可使 Wnt 信号传导与纤毛发生解耦联

Ahmed Manu, Fischer Sydney, Robert Karyn L, Lange Karen I, Stuck Michael W, Best Sunayna, Johnson Colin A, Pazour Gregory J, Blacque Oliver E, Nandadasa Sumeda

Molecular diagnoses and candidate gene identification in the congenital heart disease cohorts of the 100,000 genomes project

在“十万基因组计划”先天性心脏病队列中进行分子诊断和候选基因鉴定

Hartill, Verity; Kabir, Mitra; Best, Sunayna; Shaikh Qureshi, Wasay Mohiuddin; Baross, Stephanie L; Lord, Jenny; Yu, Jing; Sasaki, Erina; Needham, Hazel; Shears, Deborah; Roche, Matthew; Wall, Elizabeth; Cooper, Nicola; Ryan, Gavin; Eason, Jacqueline; Johnson, Robert; Keavney, Bernard; Hentges, Kathryn E; Johnson, Colin A

Struma Salpingis with Tubal Ectopic Pregnancy

输卵管甲状腺肿合并输卵管异位妊娠

Lashkari, Sunayna; Singh, Bharti; Kampoowale, Shreya; Soni, Deepti; Tandon, Ashwani; Maurya, Sushmita

Drug and siRNA screens identify ROCK2 as a therapeutic target for ciliopathies.

药物和siRNA筛选确定ROCK2是纤毛病的一种治疗靶点

Smith Claire E L, Streets Andrew J, Lake Alice V R, Natarajan Subaashini, Best Sunayna K, Szymanska Katarzyna, Karwatka Magdalena, Stevenson Thomas, Trowbridge Rachel, Grant Gary, Grellscheid Sushma N, Foster Richard, Morrison Ciaran G, Mavria Georgia, Bond Jacquelyn, Ong Albert C M, Johnson Colin A

Biallelic variants in Plexin B2 (PLXNB2) cause amelogenesis imperfecta, hearing loss and intellectual disability

Plexin B2 (PLXNB2) 基因的双等位基因变异会导致牙釉质发育不全、听力丧失和智力障碍。

Smith, Claire E L; Laugel-Haushalter, Virginie; Hany, Ummey; Best, Sunayna; Taylor, Rachel L; Poulter, James A; Wortmann, Saskia B; Feichtinger, Rene G; Mayr, Johannes A; Al Bahlani, Suhaila; Nikolopoulos, Georgios; Rigby, Alice; Black, Graeme C; Watson, Christopher M; Mansour, Sahar; Inglehearn, Chris F; Mighell, Alan J; Bloch-Zupan, Agnès

Two functional forms of the Meckel-Gruber syndrome protein TMEM67 generated by proteolytic cleavage by ADAMTS9 mediate Wnt signaling and ciliogenesis.

由 ADAMTS9 蛋白水解切割产生的 Meckel-Gruber 综合征蛋白 TMEM67 的两种功能形式介导 Wnt 信号传导和纤毛发生

Ahmed Manu, Fischer Sydney, Robert Karyn L, Lange Karen I, Stuck Michael W, Best Sunayna, Johnson Colin A, Pazour Gregory J, Blacque Oliver E, Nandadasa Sumeda

CIRCumcision learning experience using simulation: A pilot learning platform for safe neonatal circumcision training offered either virtually or in person

利用模拟技术进行新生儿包皮环切术学习:一个用于安全新生儿包皮环切术培训的试点学习平台,可提供线上或线下培训。

Dos Santos, Joana; Alsabban, Abdulrahman; Maizels, Max; Chua, Michael; Vuppal, Sunayna; Louca, Emily; Perlmutar, Martin; Knabl, Jennifer; Rickard, Mandy; Varghese, Abby; Lorenzo, Armando J; Koyle, Martin Allan

Effect of Wearing a Face Mask on Hand-to-Face Contact by Children in a Simulated School Environment: The Back-to-School COVID-19 Simulation Randomized Clinical Trial

佩戴口罩对模拟学校环境下儿童手部接触面部的影响:返校新冠疫情模拟随机临床试验

Science, Michelle; Caldeira-Kulbakas, Monica; Parekh, Rulan S; Maguire, Bryan R; Carroll, Stacie; Anthony, Samantha J; Bitnun, Ari; Bourns, Laura E; Campbell, Douglas M; Cohen, Eyal; Dodds, Alison; Dubey, Vinita; Friedman, Jeremy N; Greenwood, Jodi L; Hopkins, Jessica P; Imgrund, Ryan; Korczak, Daphne J; Looi, Thomas; Louca, Emily; Mertz, Dominik; Nashid, John; Panzera, Giovanna; Schneiderman, Jane E; Schwartz, Kevin L; Streitenberger, Laurie; Vuppal, Sunayna; Walsh, Catharine M; Jüni, Peter; Matava, Clyde T

Unlocking the potential of the UK 100,000 Genomes Project-lessons learned from analysis of the "Congenital Malformations caused by Ciliopathies" cohort

释放英国十万基因组计划的潜力——从“纤毛病引起的先天性畸形”队列分析中汲取的经验教训

Best, Sunayna; Inglehearn, Chris F; Watson, Christopher M; Toomes, Carmel; Wheway, Gabrielle; Johnson, Colin A