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

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

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

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

Long-Term Kidney Outcomes After SARS-CoV-2 Infection in Children Aged 0-12 Years: A Systematic Review

0-12岁儿童SARS-CoV-2感染后的长期肾脏结局:系统评价

Alhumaid, Saad; Alkhamees, Abdullah Abdulrahman; Al Dossary, Nourah; Almuslim, Anwar A; Majzoub, Rabab Abbas; Alalwan, Qasem M; Alsaeed, Mohammed Jassim; Aljowaisem, Fahad Mohammed; Alqahtani, Manahi Ayadh; Alamer, Abdulmohsen Ibrahim; ALDuhailan, Muath Ibrahim; Al Nasser, Dawood Adnan; Almuhanna, Mohammed S; Al-Kamees, Mustafa A; Alhadab, Hassan Ali; Alsultan, Ali Ahmed; Bukhamseen, Ali N; Alabdullah, Abdulaziz Abdullah; Alhaddad, Kawther S; Alhumaid, Murtadha A; Almusabeh, Hassan M; Almubarak, Yasin S; AlShayeb, Rugayah Ahmed; Alnami, Dalal Ahmed; Alatiyyah, Yaqoub Yousef; Al Alawi, Zainab; Alabdulqader, Muneera

Clinical accuracy and applications of the Pediatric Assessment Triangle in emergency care: a narrative review

儿科评估三角在急诊护理中的临床准确性和应用:叙述性综述

Rath, Shree; Alsabri, Mohammed; Alhaddad, Joseph; Patel, Aanal; Chacko, Merlin Malal; Bucciarelli, Bethany

Developing an AI-powered tool for radiographic feedback on working length determination in pre-clinical endodontic training

开发一种人工智能工具,用于在临床前牙髓病学培训中提供放射影像反馈,以确定工作长度

Aljamani, Sanaa; AlMomani, Iman; El-Shafai, Walid; Al-Akhras, Mousa; AlHaddad, AbdulAziz; Abu Zaghlan, Rawan