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

Clinical presentation and management outcomes of pediatric lung abscess: A retrospective cohort study

儿童肺脓肿的临床表现和治疗结果:一项回顾性队列研究

Alshadfan, Lina; Abualhaj, Saleh; Kilani, Muna; Hamdan, Hisham; AlSaify, Diana; Abu Taleb, Samia Saber; Al-Raqad, Mohammed K

Electrocardiographic Changes in Jordanian Patients With Becker Muscular Dystrophy

约旦贝克尔肌营养不良症患者的心电图变化

Al-Raqad, Mohammed K; Alwahsh, Shorouk; Hejazi, Issa S; Abu-Salah, Osama T; Alshadfan, Lina; Abu-Ledeh, Amal; Ghanem, Nour; Braik, Lana; Raggad, Ahmad D

Genome-wide CRISPR-Cas9 Screen Identifies Leukemia-Specific Dependence on a Pre-mRNA Metabolic Pathway Regulated by DCPS

全基因组 CRISPR-Cas9 筛选发现白血病特异性依赖于由 DCPS 调控的 pre-mRNA 代谢通路。

Takuji Yamauchi ,Takeshi Masuda ,Matthew C Canver ,Michael Seiler ,Yuichiro Semba ,Mohammad Shboul ,Mohammed Al-Raqad ,Manami Maeda ,Vivien A C Schoonenberg ,Mitchel A Cole ,Claudio Macias-Trevino ,Yuichi Ishikawa ,Qiuming Yao ,Michitaka Nakano ,Fumio Arai ,Stuart H Orkin ,Bruno Reversade ,Silvia Buonamici ,Luca Pinello ,Koichi Akashi ,Daniel E Bauer ,Takahiro Maeda

SYT1-associated neurodevelopmental disorder: a case series

SYT1相关神经发育障碍:病例系列

Baker, Kate; Gordon, Sarah L; Melland, Holly; Bumbak, Fabian; Scott, Daniel J; Jiang, Tess J; Owen, David; Turner, Bradley J; Boyd, Stewart G; Rossi, Mari; Al-Raqad, Mohammed; Elpeleg, Orly; Peck, Dawn; Mancini, Grazia M S; Wilke, Martina; Zollino, Marcella; Marangi, Giuseppe; Weigand, Heike; Borggraefe, Ingo; Haack, Tobias; Stark, Zornitza; Sadedin, Simon; Tan, Tiong Yang; Jiang, Yunyun; Gibbs, Richard A; Ellingwood, Sara; Amaral, Michelle; Kelley, Whitley; Kurian, Manju A; Cousin, Michael A; Raymond, F Lucy

A homozygous loss-of-function CAMK2A mutation causes growth delay, frequent seizures and severe intellectual disability

纯合功能丧失的 CAMK2A 突变导致生长迟缓、频繁癫痫发作和严重智力障碍

Poh Hui Chia #, Franklin Lei Zhong #, Shinsuke Niwa #, Carine Bonnard, Kagistia Hana Utami, Ruizhu Zeng, Hane Lee, Ascia Eskin, Stanley F Nelson, William H Xie, Samah Al-Tawalbeh, Mohammad El-Khateeb, Mohammad Shboul, Mahmoud A Pouladi, Mohammed Al-Raqad, Bruno Reversade

Loss of the scavenger mRNA decapping enzyme DCPS causes syndromic intellectual disability with neuromuscular defects

清除剂 mRNA 脱帽酶 DCPS 的缺失会导致综合征性智力障碍和神经肌肉缺陷

Calista K L Ng, Mohammad Shboul, Valerio Taverniti, Carine Bonnard, Hane Lee, Ascia Eskin, Stanley F Nelson, Mohammed Al-Raqad, Samah Altawalbeh, Bertrand Séraphin, Bruno Reversade