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

Biallelic variants in RNU2-2 cause a remarkably frequent developmental and epileptic encephalopathy

RNU2-2基因的双等位基因变异会导致一种非常常见的发育性和癫痫性脑病。

Jackson, Adam; Blakes, Alexander J M; Alhaddad, Bader; Henry, Olivia J; Delgado-Vega, Angelica M; Wall, Elizabeth; Abdelhadi, Ola; Agrawal, Shakti; Bakur, Khadijah; Blair, Edward; Brady, Angela F; Brittain, Helen; Chandler, Kate E; Clarke, Natasha; Danelli, Miriana; Drinkall, Nicholas; Duba, Irene; Elmslie, Frances; Ellingford, Jamie; Ewans, Lisa J; Fennell, Andrew P; Gazdagh, Gabriella; Heller, Simon P; Hammarsjö, Anna; Karrman, Kristina; Kini, Usha; Lesko, Nicole; Lindstrand, Anna; Macintosh, Rebecca; Mansour, Sahar; Menzies, Lara; Metcalfe, Kay; Milhench, Alison; Nashef, Lina; O'Keefe, Raymond T; Pacheco, Nadja Pekkola; Palmer, Elizabeth E; Parida, Amitav; Prescott, Katrina; Redman, Melody; Renieri, Alessandra; Fallerini, Chiara; Rizzo, Caterina Lo; Sachdev, Rani; Simons, Cas; Sisodiya, Sanjay M; Stewart, Helen; Stödberg, Tommy; Banos-Pinero, Benito; Taylan, Fulya; Thomas, Huw B; Tinella, Flavia; Wiafe, Samuel; Wedell, Anna; Whiffin, Nicola; Walker, Susan; Rius, Rocio; Chae, Jong Hee; Nordgren, Ann; Alkuraya, Fowzan; Lord, Jenny; Banka, Siddharth

Bi-allelic variants in OLA1 cause a neurodevelopmental disorder with joint hypermobility

OLA1基因的双等位基因变异会导致一种伴有关节过度活动的神经发育障碍。

AlAbdi, Lama; Sezer, Abdullah; Alzahrani, Fatema; Cevik, Sebiha; Demir, Zanyar; Abdullah, Nor Linda; Durukan, Özlem; Dallı, Efe; Hashem, Mais O; Abuyousef, Omar; Aljamal, Bayan; Helaby, Rana; Radwan, Mona; Jaafar, Amal; Alshidi, Tarfa; Salem, Israa; Hamid, Halima; Alhaddad, Bader; Bakur, Khadijah; Taşdelen, Elifcan; Kılıç, Mustafa; Al-Owain, Mohammed; Alhashem, Amal; Bratland, Eirik; Paulsen, Julie; Houge Douzgos, Gunnar; Politi, Anya Revah; Uguen, Kevin; Masson, Emmanuelle; Audebert, Severine; AlAnzi, Talal; Arold, Stefan T; Ergin, Bora; Ibrahim, Leena A; Kaplan, Oktay I; Alkuraya, Fowzan S

MDGA2 homozygous loss-of-function variants cause developmental and epileptic encephalopathy

MDGA2纯合功能缺失变异会导致发育性和癫痫性脑病。

Morsy, Heba; Kim, Hyeonho; Jang, Gyubin; Zaki, Maha S; Severino, Mariasavina; Abdelrazek, Ibrahim M; Hussien, Haytham; Self, Eleanor; Albaradie, Raidah Saleem; Bakur, Khadijah; Firoozfar, Zahra; Efthymiou, Stephanie; Noureldeen, Mahmoud M; Nabil, Amira; Alvi, Javeria Raza; Molavi, Fateme; Alavi, Shahryar; Alibakhshi, Reza; Topcu, Vehap; Mancilar, Hanifenur; Uctepe, Eyyup; Yesilyurt, Ahmet; Aldhalaan, Hesham; Showki Tous, Ehab Salah; Alhaddad, Bader; Elbendary, Hasnaa M; Scardamaglia, Annarita; Murphy, David; Yépez, Vicente A; Gagneur, Julien; Omar, Tarek I; Abd Elmaksoud, Marwa; Vandrovocova, Jana; Abdalla, Ebtessam; Reilly, Mary M; Sultan, Tipu; Alkuraya, Fowzan S; Gleeson, Joseph G; Um, Ji Won; Houlden, Henry; Ko, Jaewon; Maroofian, Reza

Cytokine profiles, genetic polymorphisms, and systemic inflammatory markers in type 1 diabetes patients with COVID-19: IL-18 a predictor of disease severity

型糖尿病合并 COVID-19 患者的细胞因子谱、基因多态性和全身炎症标志物:IL-18 是疾病严重程度的预测因子

Abdullah, Mohammed Yousif; Laaribi, Ahmed Baligh; Babay, Wafa; Alhaddad, Farah Abdulkhaleq Khattab; Mehri, Asma; Ouzari, Hadda-Imene; Marghali, Sonia

Bi-allelic RNU6ATAC variants cause a minor spliceopathy characterized by transcriptome-wide minor intron retention and multisystem manifestations

RNU6ATAC双等位基因变异会导致一种轻微的剪接病,其特征是转录组范围内的次要内含子保留和多系统表现。

Mendez, Rodrigo; Arriaga, Taylor M; Ma, Jialan; Bonner, Devon E; Emami, Sara; Levy, Rebecca J; Alsagheir, Afaf; Alhaddad, Bader; Bakur, Khadijah; Ungar, Rachel A; Matalon, Dena R; Miller, Alexander M; Nguyen, Jonathan; Smith, Kevin S; Scott, Stuart A; Liao, Linda; Ng, Zena; Marwaha, Shruti; Ward, Alistair; Novacic, Danica; Alkuraya, Fowzan S; Bernstein, Jonathan A; Ganesh, Vijay S; O'Donnell-Luria, Anne; Montgomery, Stephen B; Wheeler, Matthew T

Training and support for dementia caregivers in the Middle East and North Africa region: a scoping review

中东和北非地区痴呆症照护者的培训和支持:范围界定综述

Chan, Jackie Hoi Man; Alhaddad, Alia D; Dias, Jacqueline Maria

IL-36 mediates immune activation in Sjögren's disease and may represent a novel biomarker of disease

IL-36介导干燥综合征中的免疫激活,并可能成为该疾病的一种新型生物标志物。

Alhaddad, Bayan; Wrynn, Theresa; Kiripolsky, Jeremy; Kasperek, Eileen M; Miecznikowski, Jeffrey C; Perez, Paola; Twohig, Joseph; Warner, Blake M; Romano, Rose-Anne; Kramer, Jill M

Oral and topical peptides for skin aging: systematic review and meta-analysis of randomized controlled trials

口服和外用肽类药物治疗皮肤老化:随机对照试验的系统评价和荟萃分析

Nukaly, Houriah Y; Halawani, Ibrahim R; Irtaza, H M; Alturkistani, Talah; Serafi, Mohammed Rehab; Alhawsawi, Waseem; Bogari, Hassan Omar; Ahmed, Ferdous A; Alhaddad, Yara; Shadid, Asem; Alharithy, Ruaa; Jfri, Abdulhadi

Highlights of Model Quality Assessment in CASP16

CASP16 模型质量评估要点

Fadini, Alisia; Adiyaman, Recep; Alhaddad, Shaima N; Behzadi, Behnosh; Cheng, Jianlin; Cui, Xinyue; Edmunds, Nicholas S; Freddolino, Lydia; Genc, Ahmet G; Liang, Fang; Liu, Dong; Liu, Jian; Liu, Quancheng; McGuffin, Liam J; Neupane, Pawan; Peng, Chunxiang; Shortle, David R; Sun, Meng; Wang, Haodong; Wuyun, Qiqige; Zhang, Guijun; Zhao, Xuanfeng; Zheng, Wei; Read, Randy J

Assessing disease activity in inflammatory arthritis using optical spectral transmission: a systematic review compared to joint ultrasound, MRI, and clinical activity markers

利用光学光谱透射法评估炎症性关节炎的疾病活动度:与关节超声、MRI 和临床活动指标进行比较的系统评价

Druck, Ann-Kathrin; Keshavamurthy, Chandana; Alhaddad, Mohammed; Goules, Andreas V; Schwarting, Andreas; Triantafyllias, Konstantinos