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

Clinical and Molecular Profiles of a Cohort of Egyptian Patients with Collagen VI-Related Dystrophy

一组埃及胶原蛋白VI相关营养不良患者的临床和分子特征

期刊:Journal of Molecular Neuroscience
影响因子:2.7
doi:10.1007/s12031-024-02266-8
Sharaf-Eldin, Wessam E; Rafat, Karima; Issa, Mahmoud Y; Elbendary, Hasnaa M; Eissa, Noura R; Hawaary, Bahaa; Gaboon, Nagwa E A; Maroofian, Reza; Gleeson, Joseph G; Essawi, Mona L; Zaki, Maha S
发表日期：2024
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Genetic etiology and clinical challenges of phenylketonuria

苯丙酮尿症的遗传病因和临床挑战

期刊:Human Genomics
影响因子:4.3
doi:10.1186/s40246-022-00398-9
Elhawary, Nasser A; AlJahdali, Imad A; Abumansour, Iman S; Elhawary, Ezzeldin N; Gaboon, Nagwa; Dandini, Mohammed; Madkhali, Abdulelah; Alosaimi, Wafaa; Alzahrani, Abdulmajeed; Aljohani, Fawzia; Melibary, Ehab M; Kensara, Osama A
发表日期：2022
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Deleterious Variants in WNT10A, EDAR, and EDA Causing Isolated and Syndromic Tooth Agenesis: A Structural Perspective from Molecular Dynamics Simulations

WNT10A、EDAR 和 EDA 中的有害变异导致孤立性和综合征性牙齿缺失：来自分子动力学模拟的结构视角

期刊:International Journal of Molecular Sciences
影响因子:4.9
doi:10.3390/ijms20215282
Parveen, Asia; Khan, Sher Alam; Mirza, Muhammad Usman; Bashir, Hina; Arshad, Fatima; Iqbal, Maria; Ahmad, Waseem; Wahab, Ahsan; Fiaz, Amal; Naz, Sidra; Ashraf, Fareeha; Mobeen, Tayyaba; Aziz, Salman; Ahmed, Syed Shoaib; Muhammad, Noor; Hassib, Nehal F; Mostafa, Mostafa I; Gaboon, Nagwa E; Gul, Roquyya; Khan, Saadullah; Froeyen, Matheus; Shoaib, Muhammad; Wasif, Naveed
发表日期：2019
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A Novel Homozygous Frameshift Mutation in CCN6 Causing Progressive Pseudorheumatoid Dysplasia (PPRD) in a Consanguineous Yemeni Family

也门近亲结婚家族中CCN6基因的新型纯合移码突变导致进行性假性风湿性骨发育不良（PPRD）

期刊:Frontiers in Pediatrics
影响因子:2
doi:10.3389/fped.2019.00245
Gaboon, Nagwa E A; Parveen, Asia; El Beheiry, Ahmed; Al-Aama, Jumana Y; Alsaedi, Mosab S; Wasif, Naveed
发育与干细胞
发表日期：2019
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