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

Somatic genetic rescue in ZCCHC8-associated telomere biology disorders

ZCCHC8相关端粒生物学疾病的体细胞遗传拯救

de Tocqueville, Sophie; Donaires, Flavia; DeCleene, Nicholas; Ba, Ibrahima; Nouri, Mina; Kermasson, Laëtitia; Chelbi, Malika; Bergot, Emmanuel; Leblanc, Thierry; Borie, Raphael; Philippot, Quentin; Antone, Elise; Prévot, Grégoire; Blanchard, Elodie; Keren, Boris; Lainey, Elodie; Catto, Marilia; Santana, Barbara; Chandrasekharappa, Settara C; Donovan, Frank X; Bazzo Catto, Luiz Fernando; Callebaut, Isabelle; Young, Neal S; Halfon-Domenech, Carine; Calado, Rodrigo T; Bertuch, Alison A; Gutierrez-Rodrigues, Fernanda; Kannengiesser, Caroline; Revy, Patrick

An Educational Video Game in Trauma Triage at Nontrauma Centers: A Secondary Analysis of a Randomized Clinical Trial

一款用于非创伤中心创伤分诊的教育视频游戏:一项随机临床试验的二次分析

Mohan, Deepika; Fischhoff, Baruch; Talisa, Victor; Elmer, Jonathan; White, Douglas B; Angus, Derek C; Peitzman, Andrew; Bendesky, Brad; Chapman, Allyson Cook; Forsythe, Raquel M; Guyette, Frank X; Hynes, Allyson M; Oskvarek, Jonathan J; Weingart, Scott D; Weinstock, Michael; Chang, Chung-Chou H

A modified Delphi consensus statement on the role of biopsy in small renal masses

关于活检在小肾脏肿块中的作用的改良版德尔菲共识声明

Bernstein, Darryl E; Warren, Hannah; Santiapillai, Joseph; Fox, Geraldine; Wildgoose, William H; Stewart, Grant D; Armitage, Jim; Le Roux, Pieter; Keeley, Frank X Jr; Campain, Nicholas; Challacombe, Ben; Warburton, Hazel; Palumbo, Carlotta; Campi, Riccardo; Muselaers, Stjin H J; Walkden, Miles; Bandula, Steve; Yu, Dominic; Gonsalves, Michael; Tran-Dang, My-Anh; Etessami, Nazanin; Oliveira, Pedro; Calio, Anna; El-Sheikh, Soha; Wah, Tze; Bex, Axel; Barod, Ravi; Gurusamy, Kurinchi; Tran, Maxine G B

Tracking Cytopenias in FANCA-deficient Fanconi Anemia

追踪FANCA缺陷型范可尼贫血症中的细胞减少症

Maxwell, Rochelle R; Berger, Tamar; Jiang, Caroline S; Rosenberg, Allana; Gonzalez, Ashlyn-Maree; Odame, Jodie; Lin, Yu-Chien; Lach, Francis P; Kennedy, Jennifer; Tryon, Rebecca; Donovan, Frank X; Kimble, Danielle C; Soma, Shivatheja; Cancio, Maria I; Wagner, John E; MacMillan, Margaret L; Davies, Stella M; Chandrasekharappa, Settara C; Mehta, Parinda A; Boulad, Farid; Auerbach, Arleen D; Smogorzewska, Agata

Type V collagen exhibits distinct regulatory activities in TMJ articular disc versus condylar cartilage during postnatal growth and remodeling

V型胶原蛋白在颞下颌关节盘和髁突软骨中,于出生后生长和重塑过程中表现出不同的调节活性。

Prashant Chandrasekaran,Abdulaziz Alanazi,Bryan Kwok,Qing Li,Girish Viraraghavan,Sriram Balasubramanian,David B Frank,X Lucas Lu,David E Birk,Robert L Mauck,Nathaniel A Dyment,Eiki Koyama,Lin Han

FANCA c.3624C>T (p.Ser1208=) is a hypomorphic splice variant associated with delayed onset of Fanconi anemia

FANCA c.3624C>T (p.Ser1208=) 是一种功能减弱的剪接变异体,与范可尼贫血症的延迟发病相关。

Ramanagouda Ramanagoudr-Bhojappa ,Rebecca Tryon ,Francis P Lach ,Frank X Donovan ,Rochelle Maxwell ,Allana Rosenberg ,Margaret L MacMillan ,John E Wagner ,Arleen D Auerbach ,Agata Smogorzewska ,Settara C Chandrasekharappa

Bridging the gap between in vitro and in vivo models: a way forward to clinical translation of mitochondrial transplantation in acute disease states

弥合体外模型和体内模型之间的差距:线粒体移植在急性疾病状态下实现临床转化的一条途径

Bodenstein, David F; Siebiger, Gabriel; Zhao, Yimu; Clasky, Aaron J; Mukkala, Avinash N; Beroncal, Erika L; Banh, Lauren; Aslostovar, Lili; Brijbassi, Sonya; Hogan, Sarah E; McCully, James D; Mehrabian, Mohadeseh; Petersen, Thomas H; Robinson, Lisa A; Walker, Melanie; Zachos, Constantine; Viswanathan, Sowmya; Gu, Frank X; Rotstein, Ori D; Cypel, Marcelo; Radisic, Milica; Andreazza, Ana C

AP2A2 mutation and defective endocytosis in a Malian family with hereditary spastic paraplegia

马里一个家族遗传性痉挛性截瘫患者的AP2A2基因突变和内吞作用缺陷

Salimata Diarra,Saikat Ghosh,Lassana Cissé,Thomas Coulibaly,Abdoulaye Yalcouyé,George Harmison,Salimata Diallo,Seybou H Diallo,Oumar Coulibaly,Alice Schindler,Cheick A K Cissé,Alassane B Maiga,Salia Bamba,Oumar Samassekou,Mustafa K Khokha,Emily K Mis,Saquib A Lakhani,Frank X Donovan,Steve Jacobson,Craig Blackstone,Cheick O Guinto,Guida Landouré,Juan S Bonifacino,Kenneth H Fischbeck,Christopher Grunseich

AP2A2 mutation and defective endocytosis in a Malian family with hereditary spastic paraplegia

马里一个患有遗传性痉挛性截瘫的家族中AP2A2基因突变和内吞作用缺陷

Salimata Diarra ,Saikat Ghosh ,Lassana Cissé ,Thomas Coulibaly ,Abdoulaye Yalcouyé ,George Harmison ,Salimata Diallo ,Seybou H Diallo ,Oumar Coulibaly ,Alice Schindler ,Cheick A K Cissé ,Alassane B Maiga ,Salia Bamba ,Oumar Samassekou ,Mustafa K Khokha ,Emily K Mis ,Saquib A Lakhani ,Frank X Donovan ,Steve Jacobson ,Craig Blackstone ,Cheick O Guinto ,Guida Landouré ,Juan S Bonifacino ,Kenneth H Fischbeck ,Christopher Grunseich

Evaluating Oncologists' Practice Patterns and Decision-Making in Locally Advanced or Metastatic Urothelial Carcinoma: The US Physician PARADIGM Study

评估肿瘤科医生在局部晚期或转移性尿路上皮癌中的诊疗模式和决策:美国医师PARADIGM研究

Gupta, Shilpa; Costantino, Halley; Ike, Chiemeka; Gupta, Shaloo; Bhanegaonkar, Abhijeet; Su, Cathy; Thakkar, Sheena; Mackie, deMauri S; Devgan, Geeta; Katzenstein, Howard M; Liu, Frank X