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

Explainable AI-driven graph-based neural networks for mucopolysaccharidoses diagnosis

用于粘多糖贮积症诊断的可解释人工智能驱动的基于图的神经网络

Fadul, Ruba; Tumzghi, Natnael; Seghier, Mohamed; Al-Jasmi, Fatma; AlShehhi, Aamna

Expert opinion on facilitating intrafamily communication in rare diseases-Lessons from Fabry disease

专家意见:如何促进罕见病患者家庭内部沟通——以法布里病为例

Germain, Dominique P; Al-Jasmi, Fatma; Altarescu, Gheona; Azevedo, Olga; Barreto, Fellype C; Burlina, Alessandro P; Ezgü, Fatih; Laney, Dawn A; Linhart, Ales; Maski, Manish; Moiseev, Sergey; Niu, Dau-Ming; Nochioka, Kotaro; Ouyang, Yan; Onay, Huseyin; Pavlou, Mary; Pachter, Nicholas; Politei, Juan; Rawda, Sunbul; Steeds, Richard P; Tuttolomondo, Antonino; Yu, Wen-Chung; West, Michael L; Berger, Kenneth I; Maksimova, Irina

Clinical Features of Families with a Novel Pathogenic Mutation in Sepiapterin Reductase

蝶呤还原酶中一种新型致病突变家族的临床特征

Mohamed, Feda E; Alzyoud, Lara; Ghattas, Mohammad A; Tabouni, Mohammed; Fienemann, André; Trinh, Joanne; Baydoun, Ibrahim; Kizhakkedath, Praseetha; Alblooshi, Hiba; Shaukat, Qudsia; Amouri, Rim; Farrer, Matthew J; Sassi, Samia Ben; Al-Jasmi, Fatma

Evaluating knowledge enhancement and attitudinal shift among physicians participating in capacity building workshops on expanded premarital screening in the United Arab Emirates: a cross-sectional study

评估阿联酋参与扩大婚前筛查能力建设研讨会的医生的知识提升和态度转变:一项横断面研究

Rahma, Azhar T; Allam, Mushal; Amoodi, Hajra; Abdullahi, Aminu S; Alameri, Mohamed Salem; Abdulrahman, Wadha Mohammed; Al Jasmi, Fatma; Al Saffar, Muna

An iPSC-derived neuronal model reveals manganese's role in neuronal endocytosis, calcium flux and mitochondrial bioenergetics.

利用 iPSC 衍生的神经元模型揭示了锰在神经元内吞作用、钙流和线粒体生物能量学中的作用

Budinger Dimitri, Alhaque Sharmin, González-Méndez Ramón, Dadswell Chris, Barwick Katy, Ferrini Arianna, Roth Charlotte, McCann Conor J, Tuschl Karin, Al Jasmi Fatma, Zaki Maha S, Park Julien H, Dale Russell C, Mohammad Shekeeb, Christodoulou John, Moulding Dale, Duchen Michael R, Barral Serena, Kurian Manju A

Comparison of machine learning models for mucopolysaccharidosis early diagnosis using UAE medical records

利用阿联酋医疗记录对用于粘多糖贮积症早期诊断的机器学习模型进行比较

AlShehhi, Aamna; Alblooshi, Hiba; Fadul, Ruba; Tumzghi, Natnael; Tenaiji, Amal Al; Harbi, Mariam Al; Al-Jasmi, Fatma

Feasibility and efficacy of the forced oscillation technique in patients with lysosomal storage diseases

强制振荡技术在溶酶体贮积症患者中的可行性和有效性

Alblooshi, Afaf; Zaabi, Nuha Al; Albadi, Ghaya; Al-Jasmi, Fatma A

Retrospective Study of Clinical and Genetic Profiles of Alpha-Mannosidosis Patients From the UAE

阿联酋α-甘露糖苷酶缺乏症患者临床和遗传特征的回顾性研究

Saad, Ali K; Al-Hammadi, Tasneem; Al-Ameri, Shaikha; Al-Shamsi, Aisha; Al-Dhaheri, Noura; Al Tenaiji, Amal; Al Jasmi, Fatma

Exploring the efficacy and safety of Ambroxol in Gaucher disease: an overview of clinical studies

探讨氨溴索治疗戈谢病的疗效和安全性:临床研究概述

Mohamed, Feda E; Al-Jasmi, Fatma

AI-derived comparative assessment of the performance of pathogenicity prediction tools on missense variants of breast cancer genes

基于人工智能的致病性预测工具在乳腺癌基因错义变异预测中的性能比较评估

Ahmad, Rahaf M; Ali, Bassam R; Al-Jasmi, Fatma; Al Dhaheri, Noura; Al Turki, Saeed; Kizhakkedath, Praseetha; Mohamad, Mohd Saberi