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

Differential negative dominance by KCNA2 variants associated with global developmental delay suggests KCNA2 haploinsufficiency in humans

KCNA2变异体与全面发育迟缓相关的差异性负显性作用提示人类存在KCNA2单倍体功能不全。

Boon, Pei Xin; Jauregi-Miguel, Amaia; Yasarbas, S Suheda; Pozzi, Serena; Karlsson, Urban; Husami, Ammar; Ko, Charmaine; Shillington, Amelle; Pantazis, Antonios

Recessive AARS1 variants perturb human and mouse development

隐性AARS1变异会扰乱人类和小鼠的发育

Watts, Jennifer L; Costantino, Nicole; Husami, Ammar; Dayarathna, Thamara; Willeke, Logan; Peña, Loren D M; Seiwert, Elizabeth; Gilbert, Donald L; Stottmann, Rolf W

Case Report: A patient with a novel heterozygous IRF8 variant with repeated infection and immune-mediated organ disease, but without disseminated mycobacterial disease despite BCG immunization

病例报告:一名携带新型杂合IRF8变异的患者,反复感染并出现免疫介导的器官疾病,但尽管接种了卡介苗,却未发生播散性分枝杆菌病。

Chiang, Samuel C C; Owsley, Erika; Husami, Ammar; Akeno, Nagako; Cobb, Cristina M; Yang, Li; Marsh, Rebecca A; Myers, Kenneth A; Rubin, Tamar S

Sequencing validates deep learning models for EHR-based detection of Noonan syndrome in pediatric patients

测序验证了基于电子病历的深度学习模型在儿科患者努南综合征检测中的有效性

Yang, Zeyu; Shikany, Amy; Husami, Ammar; Wang, Xinjian; Mendonca, Eneida; Nicole Weaver, K; Chen, Jing

Genetic data normalization for genomic medicine: a Fast Healthcare Interoperability Resources Genomics reference implementation

基因组医学的遗传数据标准化:快速医疗互操作性资源基因组学参考实现

Dolin, Robert H; Todor, Nicolae-Mihai; Shalaby, James; Arsalan, Huda; Shah, Eshani; Basravi, Nedah; Husami, Ammar; Rampersad, Akash; Heale, Bret S E; Chamala, Srikar

Genetic analysis and functional assessment of a TGFBR2 variant in micrognathia and cleft palate.

对小颌畸形和腭裂中 TGFBR2 变异体的遗传分析和功能评估

Michaels Jes-Rite, Iyyanar Paul P R, Husami Ammar, Vontell Andrew M, Brugmann Samantha A, Stottmann Rolf W

Evaluation of Functional and Clinical Outcomes Following Surgical Repair of Complete Thumb Ulnar Collateral Ligament Injuries in Adults: A Systematic Review Across Diverse Populations

成人拇指尺侧副韧带完全损伤手术修复后功能和临床结果的评估:一项针对不同人群的系统评价

Assefa, Amanuel Kefyalew; Amin, Maysaa N; Hashish, Rahma; Agha Tabari, Khaled; Swami, Shivling S; Kasagga, Alousious; Mohammed, Lubna; Husami, Malik Y; Getachew, Bantayehu

Performance of ChatGPT and Large Language Models on Medical Licensing Exams Worldwide: A Systematic Review and Network Meta-Analysis With Meta-Regression

ChatGPT 和大型语言模型在全球医学执照考试中的表现:基于元回归的系统评价和网络荟萃分析

Kasagga, Alousious; Sapkota, Aayam; Changaramkumarath, Gichin; Abucha, Jane M; Wollel, Mekdes M; Somannagari, Nethra; Husami, Malik Y; Hailu, Kirubel T; Kasagga, Ecem

Comparative Efficacy and Tolerability of Tirzepatide Versus Semaglutide at Varying Doses for Weight Loss in Non-diabetic Adults With Obesity: A Network Meta-Analysis of Randomized Controlled Trials

不同剂量替拉帕肽与索马鲁肽治疗非糖尿病肥胖成人减肥的疗效和耐受性比较:一项随机对照试验的网络荟萃分析

Kasagga, Alousious; Rebellow, Delvy; Hashmi, Tooba; Husami, Malik Y; Lama, Pooja; Arul Selvan, Kaavya; Nakasagga, Kevin

Approach to Adult Patients with Musculoskeletal Complaints and Normal Findings: A Guide for Clinical Practice

成人肌肉骨骼疾病患者及正常体征的诊治:临床实践指南

Dawod, Moh'd S; Alswerki, Mohammad N; Alelaumi, Ahmad F; Alshloul, Saif A; Husami, Malik Y; Sulaiman, Salsabil G; Al-Azzawi, Maryam T; Al-Rawashdah, Samer Fathi; Abualhaj, Saleh