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

Adult genomic medicine: lessons from a multisite study of 2700 patients

成人基因组医学:一项纳入2700名患者的多中心研究的经验教训

Bakur, Khadijah; Hamid, Halima; Alhaddad, Bader; Alfadhel, Majid; Alhashem, Amal; Eyaid, Wafaa; Alanzi, Talal; Al Mutairi, Fuad; Alswaid, Abdulrahman; Ababneh, Farouq; Al Ghamdi, Malak; Mohamed, Sarar; Alaskar, Ahmed; Alqahtani, Farjah; Alzaidan, Hamad; Al-Owain, Mohammed; Faqeih, Eissa A; Mushiba, Aziza M; Alanazi, Rola; Almoallem, Basamat; Alsaleh, Norah Saleh; Al Tala, Saeed; Alshammari, Muneera; Turkistani, Alyazeed; Gosadi, Ghadah; Hakami, Fahad; Alobaid, Fahad; Al Rukban, Hadeel; Alfaidi, Ahmed; Ba-Abbad, Rola; Almuqbil, Mohammed A; Al-Boukai, Ahmad; Alamri, Abdulrahman Saad; Alshehri, Ali; Sulaiman, Raashda A; Almontasheri, Ali; Danish, Enam; AlSagheir, Afaf; Aljeaid, Deema; Al-Awam, Bashayer S; Shawli, Aiman; Al-Otaibi, Maha; Majdali, Wed Sameer; Azher, Zohor Asaad; Almannai, Mohammed; Baalawi, Wail; AlAbdi, Lama; Benoukraf, Touati; Alkuraya, Fowzan S

Interferon-Gamma Release Assays Versus Tuberculin Skin Test for Active Tuberculosis Diagnosis: A Systematic Review and Diagnostic Meta-Analysis

干扰素-γ释放试验与结核菌素皮肤试验在活动性结核病诊断中的比较:系统评价和诊断荟萃分析

Tobaiqi, Muhammad Abubaker; Alshamrani, Musleh Naser; Sriram, Shyamkumar; Mahmoud, Ahmad Bakur; Fadlalmola, Hammad Ali; Albadrani, Muayad

Assessing community health needs in Jeddah Second Health Cluster: A qualitative descriptive study

吉达第二卫生集群社区健康需求评估:一项定性描述性研究

Dashash, Noha A; Aljedani, Bakur O; Aljedaani, Shafeah M; Fintyanh, Nisreen G; Theban, Ali A; Khudhra, Walaa F; Fadaq, Bayan H

Morselized Femoral Head Impaction Bone Grafting of Large Defects in Ankle and Hindfoot Fusions

股骨头碎块嵌插骨移植修复踝关节和后足融合术中的大缺损

Clough, Tim; Jamjoom, Bakur; Jagani, Naeem; Quarcoopome, Jared; Kakwani, Rajesh; Townshend, David; Cullen, Nicholas; Patel, Shelain; Malhotra, Karan; Welck, Matthew

Recessive genomic and phenotypic variation in consanguineous families with cerebral palsy

近亲结婚家族中脑瘫患者的隐性基因组和表型变异

Bisarad, Pritha; Wang, Yung-Chun; Skidmore, Peter T; Galaz-Montoya, Carolina I; Lewis, Sara A; Alhaddad, Bader; Kong, Nahyun; Julian, Dominic; Magee, Helen; Kruer, Tyler N; Xie, Yuhan; Zheng, Wangjie; Li, Boyang; Rajabpour, Fatemeh V; Liu, James; Revanur, Anjali; Bakur, Khadijah; Firouzabadi, Saghar Ghasemi; Sharbatkhori, Sarina; Tafakhori, Abbas; Taghiabadi, Ehsan; Nezaminargabad, Ermia; Vosoogh, Shohreh; Jamshidi, Javad; Arefnia, Serajaddin; Hosseini, Seyed Ahmad; Khajehmirzaei, Alireza; Jamali, Faezeh; Ahmadifard, Azadeh; Khodadadi, Hamidreza; Daneshmand, Parvaneh; Bohlega, Saeed; Maddirevula, Sateesh; Nadeef, Seba Saleh; Hashem, Mais O; Salih, Mustafa A; Mohmed, Inaam N; Sticht, Heinrich; Morias, Sara Peres; Damásio, Joana; Santos, Mariana; Loureiro, José Leal; Rodrigues, Rita; Stevanin, Giovanni; Benkirane, Mehdi; Dauriat, Benjamin; Head, Nicholas; Baptista, Júlia; Shahhosseini, Saeid; Mohammad, Farhan; Zhao, Hongyu; Padilla-Lopez, Sergio; Alkuraya, Fowzan; Bakhtiari, Somayeh; Kruer, Michael C; Jin, Sheng Chih; Darvish, Hossein

The role of Aquaporins in tumorigenesis: implications for therapeutic development

水通道蛋白在肿瘤发生中的作用:对治疗研发的启示

Bhattacharjee, Arkadyuti; Jana, Ankit; Bhattacharjee, Swagato; Mitra, Sankalan; De, Swagata; Alghamdi, Badrah S; Alam, Mohammad Zubair; Mahmoud, Ahmad Bakur; Al Shareef, Zainab; Abdel-Rahman, Wael M; Woon-Khiong, Chan; Alexiou, Athanasios; Papadakis, Marios; Ashraf, Ghulam Md

Sclerosing Mucoepidermoid Carcinoma With Eosinophilia of the Thyroid: A Rare Case From Georgia and a Comprehensive Literature Review

伴有甲状腺嗜酸性粒细胞增多的硬化性黏液表皮样癌:一例来自格鲁吉亚的罕见病例及文献综述

Akhvlediani, Giorgi; Dzodzuashvili, Elene; Gabidzashvili, Nino; Arabuli, Bakur; Tsomaia, Keti; Jangavadze, Mikheil