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

Sengers syndrome caused by biallelic TIMM29 variants and RNAi silencing in Drosophila orthologue recapitulates the human phenotype

由双等位基因TIMM29变异和果蝇同源基因RNAi沉默引起的Sengers综合征重现了人类的表型

Shalata, Adel; Saada, Ann; Mahroum, Mohammed; Hadid, Yarin; Furman, Chaya; Shalata, Zaher Eldin; Desnick, Robert J; Lorber, Avraham; Khoury, Asaad; Higazi, Adnan; Shaag, Avraham; Barash, Varda; Spiegel, Ronen; Vlodavsky, Euvgeni; Rustin, Pierre; Pietrokovski, Shmuel; Manov, Irena; Gieger, Dan; Tal, Galit; Salzberg, Adi; Mandel, Hanna

Syndromic Testing-The Evaluation of Four Novel Multiplex Real-Time Polymerase Chain Reaction Panels

综合征检测——四种新型多重实时聚合酶链式反应检测板的评估

Yılmaz, Mesut; Kilic, Selcuk; Bayrakdar, Fatma; Ötgün, Selin Nar; Tosun, Ayse Istanbullu; Zeybek, Umit; Çelik, Faruk; Aygun, Gokhan; Safak, Birol; Mahroum, Naim

The Evaluation of a Rapid Syndromic Multiplex Meningitis/Encephalitis RT-qPCR MX-17 Panel

快速综合征多重脑膜炎/脑炎RT-qPCR MX-17检测板的评估

Mahroum, Naim; Yashar, Meltem; Ugur, Feyza Nihal; Oz, Nefise Zulal; Ulfer, Gozde; Tosun, Ayse Istanbullu; Yilmaz, Mesut

Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders

ACBD6双等位基因变异会导致一种神经发育综合征,伴有进行性且复杂的运动障碍。

Kaiyrzhanov, Rauan; Rad, Aboulfazl; Lin, Sheng-Jia; Bertoli-Avella, Aida; Kallemeijn, Wouter W; Godwin, Annie; Zaki, Maha S; Huang, Kevin; Lau, Tracy; Petree, Cassidy; Efthymiou, Stephanie; Karimiani, Ehsan Ghayoor; Hempel, Maja; Normand, Elizabeth A; Rudnik-Schöneborn, Sabine; Schatz, Ulrich A; Baggelaar, Marc P; Ilyas, Muhammad; Sultan, Tipu; Alvi, Javeria Raza; Ganieva, Manizha; Fowler, Ben; Aanicai, Ruxandra; Tayfun, Gulsen Akay; Al Saman, Abdulaziz; Alswaid, Abdulrahman; Amiri, Nafise; Asilova, Nilufar; Shotelersuk, Vorasuk; Yeetong, Patra; Azam, Matloob; Babaei, Meisam; Monajemi, Gholamreza Bahrami; Mohammadi, Pouria; Samie, Saeed; Banu, Selina Husna; Pinto Basto, Jorge; Kortüm, Fanny; Bauer, Mislen; Bauer, Peter; Beetz, Christian; Garshasbi, Masoud; Issa, Awatif Hameed; Eyaid, Wafaa; Ahmed, Hind; Hashemi, Narges; Hassanpour, Kazem; Herman, Isabella; Ibrohimov, Sherozjon; Abdul-Majeed, Ban A; Imdad, Maria; Isrofilov, Maksudjon; Kaiyal, Qassem; Khan, Suliman; Kirmse, Brian; Koster, Janet; Lourenço, Charles Marques; Mitani, Tadahiro; Moldovan, Oana; Murphy, David; Najafi, Maryam; Pehlivan, Davut; Rocha, Maria Eugenia; Salpietro, Vincenzo; Schmidts, Miriam; Shalata, Adel; Mahroum, Mohammad; Talbeya, Jawabreh Kassem; Taylor, Robert W; Vazquez, Dayana; Vetro, Annalisa; Waterham, Hans R; Zaman, Mashaya; Schrader, Tina A; Chung, Wendy K; Guerrini, Renzo; Lupski, James R; Gleeson, Joseph; Suri, Mohnish; Jamshidi, Yalda; Bhatia, Kailash P; Vona, Barbara; Schrader, Michael; Severino, Mariasavina; Guille, Matthew; Tate, Edward W; Varshney, Gaurav K; Houlden, Henry; Maroofian, Reza

Vaccine-induced strain replacement: theory and real-life implications

疫苗诱导的毒株替换:理论与现实意义

Mahroum, Naim; Karaoglan, Birnur Sinem; Ulucam, Enes Sedat; Shoenfeld, Yehuda

Autoimmune/inflammatory syndrome induced by adjuvants (ASIA): past, present, and future implications

佐剂诱发的自身免疫/炎症综合征(ASIA):过去、现在和未来的影响

Seida, Isa; Alrais, Mahmoud; Seida, Ravend; Alwani, Abdulkarim; Kiyak, Zeynep; Elsalti, Abdulrahman; Nil Esirgun, Sevval; Abali, Tunahan; Mahroum, Naim

Danon Disease: Entire LAMP2 Gene Deletion with Unusual Clinical Presentation-Case Report and Review of the Literature

达农病:LAMP2基因完全缺失伴罕见临床表现——病例报告及文献综述

Shalata, Adel; Bar-Shai, Marina; Hadid, Yarin; Mahroum, Muhammad; Mintz, Hila; Shalata, Zaher Eldin; Radzishevsky, Evgeny; Genizi, Jacob; Lorber, Avraham; Ben-Yosef, Tamar; Yaniv, Liat

Vaccines and Autoimmunity-From Side Effects to ASIA Syndrome

疫苗与自身免疫——从副作用到亚洲综合征

Seida, Isa; Seida, Ravend; Elsalti, Abdulrahman; Mahroum, Naim

Celebrities and Medical Awareness-The Case of Celine Dion and Stiff-Person Syndrome

名人与医学意识——席琳·迪翁与僵人综合征的案例

Elsalti, Abdulrahman; Darkhabani, Mohammad; Alrifaai, Mohamad Aosama; Mahroum, Naim

COVID-19 as an infectome paradigm of autoimmunity

COVID-19 作为自身免疫感染组的范例

Dotan, Arad; Mahroum, Naim; Bogdanos, Dimitrios P; Shoenfeld, Yehuda