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

Dysphagia is associated with major esophageal motility disorders in the UAE: a retrospective cohort study from a tertiary care center in Abu Dhabi

在阿联酋,吞咽困难与严重的食管动力障碍相关:一项来自阿布扎比三级医疗中心的回顾性队列研究

Ali, Ameirah Badr Abdullah Al; Bukasa, Laurette L; Moh'd, Tareq; Tenaiji, Khalifa Saleh Ahmed Al; Alzaabi, Mohamed Nasir; Khan, Shaima Wasim; Swaid, Thaer Khaleel; Dafalla, Hosameldin Abdelrahman; Shehata, Mostafa Ahmed; Alakrad, Eyad

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

Overview of pediatric and adult lysosomal acid lipase deficiency: expert recommendations from a Gulf cooperation council working group

儿童和成人溶酶体酸性脂肪酶缺乏症概述:海湾合作委员会工作组的专家建议

AlSayed, Moeenaldeen; Al Rasadi, Khalid; AlDhaheri, Noura S; Al-Hussaini, Abdulrahman; Awaji, Ali; Al Tenaiji, Amal; Bzeizi, Khalid Ibrahim; Miqdady, Mohamad; Al Hashmi, Nadia; Alfadhel, Majid

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

Profiling genetic variants in cardiovascular disease genes among a Heterogeneous cohort of Mendelian conditions patients and electronic health records

对一组异质性孟德尔遗传病患者及其电子健康记录中心血管疾病基因的遗传变异进行分析

Akawi, Nadia; Al Mansoori, Ghadeera; Al Zaabi, Anwar; Badics, Andrea; Al Dhaheri, Noura; Al Shamsi, Aisha; Al Tenaiji, Amal; Alzohily, Bashar; Almesmari, Fatmah S A; Al Hammadi, Hamad; Al Dhahouri, Nahid; Irshaid, Manal; Kizhakkedath, Praseetha; Al Shibli, Fatema; Tabouni, Mohammed; Allam, Mushal; Baydoun, Ibrahim; Alblooshi, Hiba; Ali, Bassam R; Foo, Roger S; Al Jasmi, Fatma

Predictors of Pathological Gastroesophageal Reflux among Emirati Patients with Reflux Symptoms Who Undergo Wireless pH Monitoring

阿联酋有反流症状的患者接受无线pH监测后,病理性胃食管反流的预测因素

Shehata, Mostafa Ahmed; Malik, Talaha Aziz; Alzaabi, Mona Hassan Jasem; Ali, Ameirah Bader Abdullah Al; Tenaiji, Khalifa Saleh Ahmed Al; Singh, Yashbir; Wallace, Michael Bradley

SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling

SCUBE3功能丧失会导致一种可识别的隐性遗传发育障碍,这是由于骨形态发生蛋白信号传导缺陷所致。

Lin, Yuh-Charn; Niceta, Marcello; Muto, Valentina; Vona, Barbara; Pagnamenta, Alistair T; Maroofian, Reza; Beetz, Christian; van Duyvenvoorde, Hermine; Dentici, Maria Lisa; Lauffer, Peter; Vallian, Sadeq; Ciolfi, Andrea; Pizzi, Simone; Bauer, Peter; Grüning, Nana-Maria; Bellacchio, Emanuele; Del Fattore, Andrea; Petrini, Stefania; Shaheen, Ranad; Tiosano, Dov; Halloun, Rana; Pode-Shakked, Ben; Albayrak, Hatice Mutlu; Işık, Emregül; Wit, Jan M; Dittrich, Marcus; Freire, Bruna L; Bertola, Debora R; Jorge, Alexander A L; Barel, Ortal; Sabir, Ataf H; Al Tenaiji, Amal M J; Taji, Sulaima M; Al-Sannaa, Nouriya; Al-Abdulwahed, Hind; Digilio, Maria Cristina; Irving, Melita; Anikster, Yair; Bhavani, Gandham S L; Girisha, Katta M; Haaf, Thomas; Taylor, Jenny C; Dallapiccola, Bruno; Alkuraya, Fowzan S; Yang, Ruey-Bing; Tartaglia, Marco

A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features

复发性纯合EMC10移码变异与一种发育迟缓综合征相关,该综合征伴有不同程度的癫痫发作和畸形特征。

Shao, Diane D; Straussberg, Rachel; Ahmed, Hind; Khan, Amjad; Tian, Songhai; Hill, R Sean; Smith, Richard S; Majmundar, Amar J; Ameziane, Najim; Neil, Jennifer E; Yang, Edward; Al Tenaiji, Amal; Jamuar, Saumya S; Schlaeger, Thorsten M; Al-Saffar, Muna; Hovel, Iris; Al-Shamsi, Aisha; Basel-Salmon, Lina; Amir, Achiya Z; Rento, Lariza M; Lim, Jiin Ying; Ganesan, Indra; Shril, Shirlee; Evrony, Gilad; Barkovich, A James; Bauer, Peter; Hildebrandt, Friedhelm; Dong, Min; Borck, Guntram; Beetz, Christian; Al-Gazali, Lihadh; Eyaid, Wafaa; Walsh, Christopher A

A Review of the Water and Energy Sectors and the Use of a Nexus Approach in Abu Dhabi

阿布扎比水资源和能源部门及关联性方法应用综述

Paul, Parneet; Al Tenaiji, Ameena Kulaib; Braimah, Nuhu