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

SCAPER-Related Autosomal Recessive Retinitis Pigmentosa with Intellectual Disability: Confirming and Extending the Phenotypic Spectrum and Bioinformatics Analyses

SCAPER相关常染色体隐性遗传性视网膜色素变性伴智力障碍：表型谱的确认与扩展及生物信息学分析

期刊:Genes
影响因子:2.8
doi:10.3390/genes15060791
Sharkia, Rajech; Zalan, Abdelnaser; Kessel, Amit; Al-Shareef, Wasif; Zahalka, Hazar; Hengel, Holger; Schöls, Ludger; Azem, Abdussalam; Mahajnah, Muhammad
SCAP
发表日期：2024
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An Update of Phenotypic-Genotypic IMNEPD Cases and a Bioinformatics Analysis of the New PTRH2 Gene Variants

IMNEPD 表型-基因型病例更新及新 PTRH2 基因变异的生物信息学分析

期刊:Genes
影响因子:2.8
doi:10.3390/genes15121508
Sharkia, Rajech; Vuillaume, Marie-Laure; Jain, Sahil; Mahajnah, Muhammad; Stoeva, Radka; Guichet, Agnès; Colin, Estelle; Champ, Jérome; Derive, Nicolas; Chefdor, Arnaud; Zalan, Abdelnaser
发表日期：2024
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PTRH2 Gene Variants: Recent Review of the Phenotypic Features and Their Bioinformatics Analysis

PTRH2基因变异：表型特征及其生物信息学分析的最新综述

期刊:Genes
影响因子:2.8
doi:10.3390/genes14051031
Sharkia, Rajech; Jain, Sahil; Mahajnah, Muhammad; Habib, Clair; Azem, Abdussalam; Al-Shareef, Wasif; Zalan, Abdelnaser
发表日期：2023
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High CCL2 Levels Detected in CSF of Patients with Pediatric Pseudotumor Cerebri Syndrome

儿童假性脑瘤综合征患者脑脊液中检测到高水平CCL2

期刊:Children-Basel
影响因子:2.1
doi:10.3390/children10071122
Genizi, Jacob; Berger, Lotan; Mahajnah, Muhammad; Shlonsky, Yulia; Golan-Shany, Orit; Romem, Azriel; Halevy, Ayelet; Nathan, Keren; Sharkia, Rajech; Zalan, Abdelnaser; Kessel, Aharon; Cohen, Rony
CCL2
神经科学
发表日期：2023
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Correction to: First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery

更正：对患有神经系统疾病的巴勒斯坦和以色列阿拉伯人进行一线外显子组测序是有效的，并有助于发现致病基因。

期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/s41431-021-00909-7
Hengel, Holger; Buchert, Rebecca; Sturm, Marc; Haack, Tobias B; Schelling, Yvonne; Mahajnah, Muhammad; Sharkia, Rajech; Azem, Abdussalam; Balousha, Ghassan; Ghanem, Zaid; Falana, Mohammed; Balousha, Osama; Ayesh, Suhail; Keimer, Reinhard; Deigendesch, Werner; Zaidan, Jimmy; Marzouqa, Hiyam; Bauer, Peter; Schöls, Ludger
发表日期：2022
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CLN8 Gene Compound Heterozygous Variants: A New Case and Protein Bioinformatics Analyses

CLN8基因复合杂合变异：一例新病例及蛋白质生物信息学分析

期刊:Genes
影响因子:2.8
doi:10.3390/genes13081393
Sharkia, Rajech; Zalan, Abdelnaser; Zahalka, Hazar; Kessel, Amit; Asaly, Ayman; Al-Shareef, Wasif; Mahajnah, Muhammad
发表日期：2022
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First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery

对患有神经系统疾病的巴勒斯坦和以色列阿拉伯人进行一线外显子组测序是高效且有助于发现致病基因的。

期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/s41431-020-0609-9
Hengel, Holger; Buchert, Rebecca; Sturm, Marc; Haack, Tobias B; Schelling, Yvonne; Mahajnah, Muhammad; Sharkia, Rajech; Azem, Abdussalam; Balousha, Ghassan; Ghanem, Zaid; Falana, Mohammed; Balousha, Osama; Ayesh, Suhail; Keimer, Reinhard; Deigendesch, Werner; Zaidan, Jimmy; Marzouqa, Hiyam; Bauer, Peter; Schöls, Ludger
发表日期：2020
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Unraveling the genetic cause of hereditary ophthalmic disorders in Arab societies from Israel and the Palestinian Authority

从以色列和巴勒斯坦权力机构的角度揭示阿拉伯社会遗传性眼病的基因病因

期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/s41431-019-0566-3
Mayer, Anja K; Balousha, Ghassan; Sharkia, Rajech; Mahajnah, Muhammad; Ayesh, Suhail; Schulze, Martin; Buchert, Rebecca; Zobor, Ditta; Azem, Abdussalam; Schöls, Ludger; Bauer, Peter; Wissinger, Bernd
发表日期：2020
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Gene and Protein Expression in Subjects With a Nystagmus-Associated AHR Mutation

眼球震颤相关 AHR 突变患者的基因和蛋白质表达

期刊:Frontiers in Genetics
影响因子:2.8
doi:10.3389/fgene.2020.582796
Natalia Borovok, Celeste Weiss, Rajech Sharkia, Michal Reichenstein, Bernd Wissinger, Abdussalam Azem, Muhammad Mahajnah
信号转导
发表日期：2020
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Homozygous stop mutation in AHR causes autosomal recessive foveal hypoplasia and infantile nystagmus

AHR基因的纯合终止突变会导致常染色体隐性遗传性黄斑发育不全和婴儿眼球震颤。

期刊:Brain
影响因子:11.7
doi:10.1093/brain/awz098
Mayer, Anja K; Mahajnah, Muhammad; Thomas, Mervyn G; Cohen, Yuval; Habib, Adib; Schulze, Martin; Maconachie, Gail D E; AlMoallem, Basamat; De Baere, Elfride; Lorenz, Birgit; Traboulsi, Elias I; Kohl, Susanne; Azem, Abdussalam; Bauer, Peter; Gottlob, Irene; Sharkia, Rajech; Wissinger, Bernd
发育与干细胞
AHR
发表日期：2019
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