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

Mapping autism in Egypt: population-based insights into prevalence, risk determinants, and severity among children aged 1-12 years

绘制埃及自闭症分布图:基于人口的1-12岁儿童自闭症患病率、风险因素和严重程度分析

Metwally, Ammal M; Salah El-Din, Ebtissam M; Sami, Samia M; Abdelraouf, Ehab R; Sallam, Sara F; Elsaeid, Amal; El-Saied, Mostafa M; Ashaat, Engy A; Fathy, Asmaa M; El-Hariri, Hazem M; Elshaarawy, Ghada A; Nassar, Maysa S; Shehata, Manal A; El-Alameey, Inas R; Bassiouni, Randa I; Abdou, Mohamed H; Helmy, Mona A; Elghareeb, Nahed A; AbdAllah, Mohamed; Rabah, Thanaa M; Salama, Somia I; Saleh, Rehan M; El Etreby, Lobna A; Elmosalami, Dalia M; Eltahlawy, Eman; Zeid, Dina Abu

Genomic and clinical predictors of cardiovascular disease in Familial dyslipidemia: risk stratification in Egyptian adolescents and young adults

家族性血脂异常患者心血管疾病的基因组和临床预测因子:埃及青少年和青年人群的风险分层

Metwally, Ammal M; Elaraby, Nesma M; Ezzat, Wafaa M; Dimitry, Mark O; Elshaarawy, Ghada A; Ashaat, Neveen A; Reda, Ashraf; Bendary, Ahmed; Abbas, Mohamed H; El Mawardy, Tarek R; Basha, Walaa A; Kamel, Iman H; Ashaat, Engy A

Genetic etiology of inherited kidney diseases in egyptian patients: next generation sequencing identifies six novel variants

埃及患者遗传性肾病的遗传病因:新一代测序技术鉴定出六个新的变异

Elaraby, Nesma M; Metwally, Ammal M; Sayed, Sara M; Ashaat, Neveen A; Gamal, Mohammed; Hussen, Dalia Farouk; Abuelela, Soha; Ramadan, Abeer; Kobesiy, Maha M; Shaker, Mai M; Elgebaly, Howida; Elnady, Hala G; Gammal, Mona El; Ashaat, Engy A

Whole exome sequencing diagnosing syndromic and non-syndromic hearing loss with expansion of the phenotypic spectrum related to TMC1 variants

全外显子组测序诊断综合征性和非综合征性听力损失,并扩展与TMC1变异相关的表型谱

Elbagoury, Nagham M; Ashaat, Engy A; Mekkawy, Mona K; Mohamed, Ragaey Y; Askoura, Anas M; Milad, Peter M; Essawi, Mona L

Molecular characterization of imprinting disorders: Beckwith-Wiedemann, Silver-Russell, and Prader-Willi syndromes in Egyptian patients

埃及患者的印记障碍分子特征:贝克威思-威德曼综合征、西尔弗-罗素综合征和普拉德-威利综合征

Mohamed, Amal M; Eid, Ola; Farid, Marwa; Ashaat, Engy; Abdel-Salam, Ghada M H; El-Bassyouni, Hala T; Essa, Mahmoud; Mahrous, Rana; Erian, Peter S F; Refaat, Khaled M; Fayez, Alaaeldin; Zaki, Maha

Association between GRIK1 rs363598 and intergenic rs360932 variants and susceptibility to autism spectrum disorders in Egyptian children

GRIK1 rs363598 和基因间 rs360932 变异与埃及儿童自闭症谱系障碍易感性的关联

Bassiony, Heba; Baiomy, Ahmed; Ahmed, Doaa; Elaraby, Nesma M; Ammar, Tamer H A; Ashaat, Engy A

Genetic screening in cohort of Egyptian patients with pulmonary arterial hypertension disease

对一组患有肺动脉高压疾病的埃及患者进行基因筛查

Ayyad, Samar I E; Refeat, Miral M; Ashaat, Engy A; Abdel-Ghaffar, Abdel-Rahman B; Hamdy, Germine M

The Diagnostic Value of Whole-Exome Sequencing in a Spectrum of Rare Neurological Disorders Associated with Cerebellar Atrophy

全外显子组测序在小脑萎缩相关罕见神经系统疾病谱系诊断中的价值

Ashaat, Engy A; Ahmed, Hoda A; Elaraby, Nesma M; Fayez, Alaaeldin; Metwally, Ammal M; Mekkawy, Mona K; Hussen, Dalia Farouk; Ashaat, Neveen A; Elhossini, Rasha M; ElAwady, Heba Ahmed; Abdelgawad, Randa H A; Gammal, Mona El; Al Kersh, Mohamed Ahmed; Saleh, Dina Amin

Biallelic TYR and TKFC variants in Egyptian patients with OCA1 and new expanded TKFC features

埃及OCA1患者中TYR和TKFC双等位基因变异以及新的扩展TKFC特征

Ashaat, Engy A; Esmaiel, Nora N; El-Saiedi, Sonia A; Ashaat, Neveen A; Hussen, Dalia Farouk; Ramadan, Abeer; Al Kersh, Mohamed Ahmed; AbdelHakim, Nirvana S; Said, Ibrahim; Metwally, Ammal M; Fayez, Alaaeldin

Association of Relative Telomere Length and LINE-1 Methylation with Autism but not with Severity

相对端粒长度和 LINE-1 甲基化与自闭症有关,但与自闭症严重程度无关

Sohair Salem, Engy Ashaat