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

A transposase-derived gene required for human brain development

一种转座酶衍生的基因,是人类大脑发育所必需的

Zapater, Luz Jubierre; Lewis, Sara A; Gutierrez, Rodrigo Lopez; Yamada, Makiko; Rodriguez-Fos, Elias; Planas-Felix, Merce; Cameron, Daniel; Demarest, Phillip; Nabila, Anika; Mueller, Helen S; Zhao, Junfei; Bergin, Paul; Reed, Casie; Chwat-Edelstein, Tzippora; Pagnozzi, Alex; Nava, Caroline; Bourel-Ponchel, Emilie; Cornejo, Patricia; Dursun, Ali; Özgül, R Köksal; Akar, Halil Tuna; Houlden, Henry; Cheema, Huma Arshad; Anjum, Muhammad Nadeem; Zifarelli, Giovanni; Bauer, Peter; Essid, Miriam; Benrhouma, Hanene; Hafsa, Meriem Ben; Kraoua, Ichraf; Galaz-Montoya, Carolina I; Proekt, Alex; Zhao, Xiaolan; Socci, Nicholas D; Hayes, Matthew; Bigot, Yves; Rabadan, Raul; Maroofian, Reza; Torrents, David; Kleinman, Claudia L; Kruer, Michael C; Toth, Miklos; Kentsis, Alex

Novel genetic variants identification and immune profiling in ataxia telangiectasia patients

共济失调毛细血管扩张症患者的新型基因变异鉴定和免疫谱分析

Jenni, Rim; Klaa, Hedia; Chikhaoui, Asma; Zayoud, Khouloud; Cochet, Emmanuelle; Kraoua, Ichraf; Burglen, Lydie; Yacoub-Youssef, Houda

Case Report: Overlap syndrome of anti-NMDA receptor encephalitis and MOG-associated disease in a pediatric patient-literature insights

病例报告:儿童患者抗NMDA受体脑炎与MOG相关疾病的重叠综合征——文献综述

Krir, Dhouha; Jamoussi, Maha; Ben Hmid, Ahlem; Ben Rhouma, Hanene; Nagi, Sonia; Galai, Yousr; Samoud, Samar; Klaa, Hédia; Kraoua, Ichraf; Ben Ahmed, Mélika; Zamali, Imen

Myxovirus Resistance A Protein Expression in Idiopathic Inflammatory Myopathies and Hereditary Muscle Diseases with Inflammatory Cell Infiltration: A North African Study.

特发性炎症性肌病和伴有炎症细胞浸润的遗传性肌肉疾病中粘液病毒抗性 A 蛋白的表达:一项北非研究。

Farhat Emna, Zamali Imen, Younes Thouraya Ben, Klaa Hedia, Stenzel Werner, Samoud Samar, Ben Rhouma Hanen, Galai Yousr, Ben Youssef-Turki Ilhem, Kraoua Ichraf, Ben Ahmed Mélika, Ben Hmid Ahlem

First Detection of 1p36 Deletion by Whole-Exome Sequencing in a Tunisian Patient

首次通过全外显子组测序在突尼斯患者中检测到1p36缺失

Kerkeni, Nesrine; Kharrat, Maher; Kraoua, Lilia; Achour, Ahlem; Maazoul, Faouzi; Mrad, Ridha; Trabelsi, Mediha

Genetics of prelingual isolated deafness and Usher syndrome in the Maghreb and Jordan: Harnessing the potential of homozygosity

马格里布和约旦语前孤立性耳聋和厄舍尔综合征的遗传学:利用纯合子的潜力

Riahi, Zied; Boucher, Sophie; Abdi, Samia; Wong Jun Tai, Fabienne; Singh-Estivalet, Amrit; Aghaie, Asadollah; Niasme-Grare, Magali; Hardelin, Jean-Pierre; Behlouli, Asma; Dahmani, Malika; Talbi, Sonia; Bouyacoub, Yosra; Mkaouar, Rahma; Charfeddine, Cherine; Amalou, Ghita; Bakhchane, Amina; Bousfiha, Amale; Salime, Sara; Elrharchi, Soukaina; Salame, Malak; Hadrami, Mouna; Boussaty, Ely; Charoute, Hicham; Detsouli, Mustapha; Snoussi, Khalid; Rouba, Hassan; Hachmi, Hala El; Veten, Fatimetou; Meiloud, Ghlana; Marrakchi, Jihene; Zainine, Rim; Chahed, Houda; Besbes, Ghazi; Trabelsi, Mediha; Mrad, Ridha; Kraoua, Ichraf; Ouhab, Sofiane; Djennaoui, Djamel; Boudjenah, Farid; Chouery, Eliane; Mustapha, Mirna; Houmeida, Ahmed; Barakat, Abdelhamid; Khodja, Fatima Ammar; Makrelouf, Mohamed; Zenati, Akila; Beltaief, Najeh; Abdelhak, Sonia; Petit, Christine; Bonnet, Crystel

Profiles of Monocyte Subsets and Fibrosis-Related Genes in Patients with Muscular Dystrophy Undergoing Intermittent Prednisone Therapy

接受间歇性泼尼松治疗的肌营养不良症患者单核细胞亚群和纤维化相关基因的特征

Chikhaoui, Asma; Najjar, Dorra; Bouchoucha, Sami; Boussetta, Rim; Achour, Nadia Ben; Tizaoui, Kalthoum; Kraoua, Ichraf; Turki, Ilhem; Yacoub-Youssef, Houda

Transcript Long-Read Sequencing Unveils the Molecular Complexity of a Novel ROGDI Splicing Variant in a Tunisian Family With Kohlschütter-Tönz Syndrome

转录组长读长测序揭示突尼斯科尔舒特-滕茨综合征家族中一种新型ROGDI剪接变异体的分子复杂性

Essid, Miriam; Karoui, Sana; Zribi, Mouna; Ben Younes, Thouraya; Januel, Louis; Lafont, Estelle; Labalme, Audrey; Ben Hafsa, Meriem; Hun Seo, Go; Khatrouch, Safa; Boudabous, Hela; Ben Chehida, Amel; Sanlaville, Damien; Jilani, Houweyda; Benjemaa, Lamia; Kraoua, Ichraf; Lesca, Gaetan; Chatron, Nicolas

Creation and Validation of the Major Pediatric Mitochondrial Cytopathies Minimum Data Set: Consensus from a Moroccan-Tunisian Delphi Study

建立和验证主要儿童线粒体细胞病最小数据集:摩洛哥-突尼斯德尔菲研究的共识

El Guessabi, Sara; Belayachi, Jihane; Ben Youssef Turki, Ilhem; Kraoua, Ichraf; Galai, Said; Lachraf, Hind; Ratbi, Ilham; Abouqal, Redouane; Kriouile, Yamna

Biotinidase Deficiency: Report of a Tunisian Case With Neuromyelitis Optica-Like Presentation and Review of the Literature

生物素酶缺乏症:一例突尼斯病例报告,其临床表现类似视神经脊髓炎,并进行文献综述

Zioudi, Abir; Benrhouma, Hanene; Jamoussi, Maha; Ben Younes, Thouraya; Miladi, Zouhour; Klaa, Hedia; Nagi, Sonia; Tabarki, Brahim; Ben Youssef Turki, Ilhem; Kraoua, Ichraf