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

Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome

翻译GTP酶GTPBP1和GTPBP2的双等位基因变异会导致一种独特的、相同的神经发育综合征。

Salpietro, Vincenzo; Maroofian, Reza; Zaki, Maha S; Wangen, Jamie; Ciolfi, Andrea; Barresi, Sabina; Efthymiou, Stephanie; Lamaze, Angelique; Aughey, Gabriel N; Al Mutairi, Fuad; Rad, Aboulfazl; Rocca, Clarissa; Calì, Elisa; Accogli, Andrea; Zara, Federico; Striano, Pasquale; Mojarrad, Majid; Tariq, Huma; Giacopuzzi, Edoardo; Taylor, Jenny C; Oprea, Gabriela; Skrahina, Volha; Rehman, Khalil Ur; Abd Elmaksoud, Marwa; Bassiony, Mahmoud; El Said, Huda G; Abdel-Hamid, Mohamed S; Al Shalan, Maha; Seo, Gohun; Kim, Sohyun; Lee, Hane; Khang, Rin; Issa, Mahmoud Y; Elbendary, Hasnaa M; Rafat, Karima; Marinakis, Nikolaos M; Traeger-Synodinos, Joanne; Ververi, Athina; Sourmpi, Mara; Eslahi, Atieh; Khadivi Zand, Farhad; Beiraghi Toosi, Mehran; Babaei, Meisam; Jackson, Adam; Bertoli-Avella, Aida; Pagnamenta, Alistair T; Niceta, Marcello; Battini, Roberta; Corsello, Antonio; Leoni, Chiara; Chiarelli, Francesco; Dallapiccola, Bruno; Faqeih, Eissa Ali; Tallur, Krishnaraya K; Alfadhel, Majid; Alobeid, Eman; Maddirevula, Sateesh; Mankad, Kshitij; Banka, Siddharth; Ghayoor-Karimiani, Ehsan; Tartaglia, Marco; Chung, Wendy K; Green, Rachel; Alkuraya, Fowzan S; Jepson, James E C; Houlden, Henry

Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders

MED27双等位基因变异会导致不同程度的脑桥-小脑-晶状体变性,并伴有运动障碍。

Maroofian, Reza; Kaiyrzhanov, Rauan; Cali, Elisa; Zamani, Mina; Zaki, Maha S; Ferla, Matteo; Tortora, Domenico; Sadeghian, Saeid; Saadi, Saadia Maryam; Abdullah, Uzma; Karimiani, Ehsan Ghayoor; Efthymiou, Stephanie; Yeşil, Gözde; Alavi, Shahryar; Al Shamsi, Aisha M; Tajsharghi, Homa; Abdel-Hamid, Mohamed S; Saadi, Nebal Waill; Al Mutairi, Fuad; Alabdi, Lama; Beetz, Christian; Ali, Zafar; Toosi, Mehran Beiraghi; Rudnik-Schöneborn, Sabine; Babaei, Meisam; Isohanni, Pirjo; Muhammad, Jameel; Khan, Sheraz; Al Shalan, Maha; Hickey, Scott E; Marom, Daphna; Elhanan, Emil; Kurian, Manju A; Marafi, Dana; Saberi, Alihossein; Hamid, Mohammad; Spaull, Robert; Meng, Linyan; Lalani, Seema; Maqbool, Shazia; Rahman, Fatima; Seeger, Jürgen; Palculict, Timothy Blake; Lau, Tracy; Murphy, David; Mencacci, Niccolo Emanuele; Steindl, Katharina; Begemann, Anais; Rauch, Anita; Akbas, Sinan; Aslanger, Ayça Dilruba; Salpietro, Vincenzo; Yousaf, Hammad; Ben-Shachar, Shay; Ejeskär, Katarina; Al Aqeel, Aida I; High, Frances A; Armstrong-Javors, Amy E; Zahraei, Seyed Mohammadsaleh; Seifi, Tahereh; Zeighami, Jawaher; Shariati, Gholamreza; Sedaghat, Alireza; Asl, Samaneh Noroozi; Shahrooei, Mohmmad; Zifarelli, Giovanni; Burglen, Lydie; Ravelli, Claudia; Zschocke, Johannes; Schatz, Ulrich A; Ghavideldarestani, Maryam; Kamel, Walaa A; Van Esch, Hilde; Hackenberg, Annette; Taylor, Jenny C; Al-Gazali, Lihadh; Bauer, Peter; Gleeson, Joseph J; Alkuraya, Fowzan Sami; Lupski, James R; Galehdari, Hamid; Azizimalamiri, Reza; Chung, Wendy K; Baig, Shahid Mahmood; Houlden, Henry; Severino, Mariasavina

Systemic perturbations in amino acids/amino acid derivatives and tryptophan pathway metabolites associated with murine influenza A virus infection

与小鼠甲型流感病毒感染相关的氨基酸/氨基酸衍生物和色氨酸代谢途径代谢物的系统性紊乱

Al-Shalan, Huda A M; Zhou, Lu; Dong, Zhifan; Wang, Penghao; Nicholls, Philip K; Boughton, Berin; Stumbles, Philip A; Greene, Wayne K; Ma, Bin

Transcriptomic Profiling of Influenza A Virus-Infected Mouse Lung at Recovery Stage Using RNA Sequencing

利用RNA测序技术对流感A病毒感染小鼠肺组织恢复期进行转录组分析

Al-Shalan, Huda A M; Hu, Dailun; Wang, Penghao; Uddin, Jasim; Chopra, Abha; Greene, Wayne K; Ma, Bin

Workplace violence among home healthcare workers in KSA: Prevalence, predictors, action, and response 2021

沙特阿拉伯家庭医疗保健工作者工作场所暴力:流行情况、预测因素、行动和应对措施 2021

Al-Sagheir, Aeshah I; Al-Shalan, Kalid; Al-Awfi, Fahad; Hassanein, Muna H; Al-Qarni, Ahmed S

Distribution of nerve fibers and nerve-immune cell association in mouse spleen revealed by immunofluorescent staining

免疫荧光染色揭示小鼠脾脏神经纤维分布及神经-免疫细胞关联

Dailun Hu, Huda A M Al-Shalan, Zhongli Shi, Penghao Wang, Yongkang Wu, Philip K Nicholls, Wayne K Greene, Bin Ma

Immunofluorescent characterization of innervation and nerve-immune cell neighborhood in mouse thymus

小鼠胸腺神经支配和神经免疫细胞邻域的免疫荧光表征

Huda A M Al-Shalan, Dailun Hu, Philip K Nicholls, Wayne K Greene, Bin Ma

Dental education in Saudi Arabia: Areas of attention

沙特阿拉伯的牙科教育:重点领域

Al-Shalan, Thakib A

Effect of acid etching on marginal adaptation of mineral trioxide aggregate to apical dentin: microcomputed tomography and scanning electron microscopy analysis

酸蚀对矿物三氧化物聚集体与根尖牙本质边缘适应性的影响:微型计算机断层扫描和扫描电子显微镜分析

Al-Fouzan, Khalid; Al-Garawi, Ziad; Al-Hezaimi, Khalid; Javed, Fawad; Al-Shalan, Thakib; Rotstein, Ilan

In vitro cariostatic effects of various iron supplements on the initiation of dental caries

体外不同铁补充剂对龋齿发生抑制作用的研究

Al-Shalan, Thakib A