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

Brodie's Abscess of the Tibia Presenting as Bilateral Hip Pain: A Diagnostic Challenge

胫骨布罗迪脓肿表现为双侧髋关节疼痛:诊断挑战

Sbeih, Suleiman; Ahmad, Yazan; Boji, Mohammed; Mahajnah, Asma; Abunejma, Fawzi; Alashqar, Mohammad

Biochemical and neurophysiological effects of deficiency of the mitochondrial import protein TIMM50

线粒体输入蛋白TIMM50缺乏的生化和神经生理效应

Eyal Paz # ,Sahil Jain # ,Irit Gottfried ,Orna Staretz-Chacham ,Muhammad Mahajnah ,Pritha Bagchi ,Nicholas T Seyfried ,Uri Ashery ,Abdussalam Azem

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

Sharkia, Rajech; Zalan, Abdelnaser; Kessel, Amit; Al-Shareef, Wasif; Zahalka, Hazar; Hengel, Holger; Schöls, Ludger; Azem, Abdussalam; Mahajnah, Muhammad

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

Sharkia, Rajech; Vuillaume, Marie-Laure; Jain, Sahil; Mahajnah, Muhammad; Stoeva, Radka; Guichet, Agnès; Colin, Estelle; Champ, Jérome; Derive, Nicolas; Chefdor, Arnaud; Zalan, Abdelnaser

Prospective, Cross-Sectional Study Finds No Common Viruses in Cerebrospinal Fluid of Children with Pseudotumor Cerebri

前瞻性横断面研究发现,患有脑假瘤的儿童脑脊液中未发现常见病毒

Cohen, Rony; Mahajnah, Muhammad; Shlonsky, Yulia; Golan-Shany, Orit; Romem, Azriel; Halevy, Ayelet; Natan, Keren; Genizi, Jacob

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

Sharkia, Rajech; Jain, Sahil; Mahajnah, Muhammad; Habib, Clair; Azem, Abdussalam; Al-Shareef, Wasif; Zalan, Abdelnaser

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

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

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。

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

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

Sharkia, Rajech; Zalan, Abdelnaser; Zahalka, Hazar; Kessel, Amit; Asaly, Ayman; Al-Shareef, Wasif; Mahajnah, Muhammad

Modeling genetic epileptic encephalopathies using brain organoids

利用脑类器官模拟遗传性癫痫性脑病

Daniel J Steinberg ,Srinivasarao Repudi ,Afifa Saleem ,Irina Kustanovich ,Sergey Viukov ,Baraa Abudiab ,Ehud Banne ,Muhammad Mahajnah ,Jacob H Hanna ,Shani Stern ,Peter L Carlen ,Rami I Aqeilan