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

Engineering Single-Chain Antibody Fragment (scFv) Variants Targeting A Disintegrin and Metalloproteinase-17 (ADAM-17)

针对解整合素和金属蛋白酶-17 (ADAM-17) 的单链抗体片段 (scFv) 变体的工程化

Kalantar, Masoud; Khorasani Buxton, Elham; Reid, Korey M; Bleyl, Donald; Leitner, David M; Raeeszadeh-Sarmazdeh, Maryam

RNA sequencing provides functional insights and diagnostic resolution in previously unsolved rare disease cases

RNA测序为以往无法确诊的罕见病病例提供了功能性见解和诊断依据。

Lewis, Robert G; O'Shea, John M; Pizzo, Lucilla; Wen, Ting; Fulmer, Makenzie L; Zhao, Jian; Verheijen, Jan; Zhang, Chaofan; Velinder, Matt; Nicholas, Thomas J; Boyden, Steven E; Ward, Alistair; Baldwin, Erin E; Andrews, Ashley; Ruiz, Joselin Hernandez; Marchetti, Marco; Viskochil, David; Carey, John C; Bleyl, Steven B; Butterfield, Russell J; Taliercio, Vanina; Botto, Lorenzo D; Mao, Rong; Bayrak-Toydemir, Pinar

Sidedness is not a prognostic factor in an unselected cohort of patients with colon cancer but prognosis for caecal carcinoma is worse - A multivariate analysis of a large single institution database

在未经筛选的结肠癌患者队列中,侧别并非预后因素,但盲肠癌的预后较差——一项基于大型单中心数据库的多因素分析

Stelzner, Sigmar; Mehdorn, Matthias; Puffer, Erik; Bleyl, Dorothea; Kittner, Thomas; Rhode, Philipp; Gockel, Ines; Mees, Soeren T

Evaluating use of changing technologies for rapid next-generation sequencing in pediatrics

评估儿科快速下一代测序技术的应用

Palmquist, Rachel; Jenkins, Sabrina Malone; Bentley, Dawn; Miller, Christine; Mao, Rong; Meibos, Bailey; Bayrak-Toydemir, Pinar; Tvrdik, Tatiana; Nadauld, Lincoln D; Bleyl, Steven B; Chowdhury, Shimul; Ostrander, Betsy; Flores-Daboub, Josue; Longo, Nicola; Tristani-Firouzi, Martin; Hobbs, Charlotte; Bonkowsky, Joshua L; Brunelli, Luca

Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study

医生指导下的基因筛查用于评估个人罹患需采取医疗措施的疾病的风险:一项大型多中心队列研究

Haverfield, Eden V; Esplin, Edward D; Aguilar, Sienna J; Hatchell, Kathryn E; Ormond, Kelly E; Hanson-Kahn, Andrea; Atwal, Paldeep S; Macklin-Mantia, Sarah; Hines, Stephanie; Sak, Caron W-M; Tucker, Steven; Bleyl, Steven B; Hulick, Peter J; Gordon, Ora K; Velsher, Lea; Gu, Jessica Y J; Weissman, Scott M; Kruisselbrink, Teresa; Abel, Christopher; Kettles, Michele; Slavotinek, Anne; Mendelsohn, Bryce A; Green, Robert C; Aradhya, Swaroop; Nussbaum, Robert L

Correction to: Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study

更正:医生指导下的基因筛查评估个人罹患需采取医学干预措施的疾病的风险:一项大型多中心队列研究

Haverfield, Eden V; Esplin, Edward D; Aguilar, Sienna J; Hatchell, Kathryn E; Ormond, Kelly E; Hanson-Kahn, Andrea; Atwal, Paldeep S; Macklin-Mantia, Sarah; Hines, Stephanie; Sak, Caron W-M; Tucker, Steven; Bleyl, Steven B; Hulick, Peter J; Gordon, Ora K; Velsher, Lea; Gu, Jessica Y J; Weissman, Scott M; Kruisselbrink, Teresa; Abel, Christopher; Kettles, Michele; Slavotinek, Anne; Mendelsohn, Bryce A; Green, Robert C; Aradhya, Swaroop; Nussbaum, Robert L

Interoperable genetic lab test reports: mapping key data elements to HL7 FHIR specifications and professional reporting guidelines

可互操作的基因实验室检测报告:将关键数据元素映射到 HL7 FHIR 规范和专业报告指南

Khalifa, Aly; Mason, Clinton C; Garvin, Jennifer Hornung; Williams, Marc S; Del Fiol, Guilherme; Jackson, Brian R; Bleyl, Steven B; Alterovitz, Gil; Huff, Stanley M

Metagenomic Insights Into the Microbial Iron Cycle of Subseafloor Habitats

海底生境微生物铁循环的宏基因组学见解

Garber, Arkadiy I; Cohen, Ashley B; Nealson, Kenneth H; Ramírez, Gustavo A; Barco, Roman A; Enzingmüller-Bleyl, Tristan C; Gehringer, Michelle M; Merino, Nancy

Targeted gene panel sequencing for the rapid diagnosis of acutely ill infants

靶向基因组测序用于快速诊断急性病患儿

Brunelli, Luca; Jenkins, Sabrina M; Gudgeon, James M; Bleyl, Steven B; Miller, Christine E; Tvrdik, Tatiana; Dames, Shale A; Ostrander, Betsy; Daboub, Josue A F; Zielinski, Brandon A; Zinkhan, Erin K; Underhill, Hunter R; Wilson, Theodore; Bonkowsky, Joshua L; Yost, Christian C; Botto, Lorenzo D; Jenkins, Justin; Pysher, Theodore J; Bayrak-Toydemir, Pinar; Mao, Rong

DMD mutation and LTBP4 haplotype do not predict onset of left ventricular dysfunction in Duchenne muscular dystrophy

DMD基因突变和LTBP4单倍型并不能预测杜氏肌营养不良症患者左心室功能障碍的发生。

Van Dorn, Charlotte S; Puchalski, Michael D; Weng, Hsin-Yi; Bleyl, Steven B; Butterfield, Russell J; Williams, Richard V