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

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

Bi-allelic loss-of-function variants in JKAMP cause a neurodevelopmental syndrome associated with dysregulation of GPR37 trafficking.

JKAMP 的双等位基因功能丧失变异会导致与 GPR37 运输失调相关的神经发育综合征。

Chacon-Millan Pilar, Delicato Antonella, Mahmood Arif, Tirozzi Alfonsina, Monfregola Jlenia, Duroure Karine, Serafini Malo, Kroll François, El-Hage Océane, Salah Somaya, Atawneh Osama M, Atik Tahir, Durmusalioglu Enise Avcı, Isik Esra, Almontashiri Naif A M, Tabarki Brahim, Kanaan Moien, Rabie Grace, Torella Annalaura, Spampanato Carmine, Battaglia Domenica Immacolata, Begemann Anais, Steindl Katharina, Rauch Anita, Zweier Markus, Hajianpour Mj, Brigatti Karlla W, Alhashem Amal, Maroofian Reza, Feigerlova Eva, Lambert Laetitia, Feillet Francois, Abbott Mary-Alice, D'Alessio Alfonso Manuel, Gonzaga-Jauregui Claudia, Tawk Marcel, De Matteis Maria Antonietta, Del Bene Filippo, Zollino Marcella, Nigro Vincenzo, Venditti Rossella, Franco Brunella, Morleo Manuela

Elucidating binding hot spots and structural stability in sirtuin family proteins for selective inhibitors: a computational approach

阐明sirtuin家族蛋白的结合热点和结构稳定性,以开发选择性抑制剂:一种计算方法

Rawlins, Lettie E; Maroofian, Reza; Cannon, Stuart J; Daana, Muhannad; Zamani, Mina; Ghani, Shamsul; Leslie, Joseph S; Ubeyratna, Nishanka; Khan, Nasar; Khan, Hamid; Scardamaglia, Annarita; Cloarec, Robin; Khan, Shujaat Ali; Umair, Muhammad; Sadeghian, Saeid; Galehdari, Hamid; Al-Maawali, Almundher; Al-Kindi, Adila; Azizimalamiri, Reza; Shariati, Gholamreza; Ahmad, Faraz; Al-Futaisi, Amna; Rodriguez Cruz, Pedro M; Salazar-Villacorta, Ainara; Ndiaye, Moustapha; Diop, Amadou G; Sedaghat, Alireza; Saberi, Alihossein; Hamid, Mohammad; Zaki, Maha S; Vona, Barbara; Owrang, Daniel; Alhashem, Abdullah M; Obeid, Makram; Khan, Amjad; Beydoun, Ahmad; Najjar, Marwan; Tajsharghi, Homa; Zifarelli, Giovanni; Bauer, Peter; Hakami, Wejdan S; Al Hashem, Amal M; Boustany, Rose-Mary N; Burglen, Lydie; Alavi, Shahryar; Gunning, Adam C; Owens, Martina; Karimiani, Ehsan G; Gleeson, Joseph G; Milh, Mathieu; Salah, Somaya; Khan, Jahangir; Haucke, Volker; Wright, Caroline F; McGavin, Lucy; Elpeleg, Orly; Shabbir, Muhammad I; Houlden, Henry; Ebner, Michael; Baple, Emma L; Crosby, Andrew H; Dhar, Atika; Kitani, Atsushi; Strober, Warren; Bohall, Bradley S; Gorbis, Alexander; Gorbis, Eda; Chopra, Pradeep; Kandeel, Samah; El-Beltagi, Eman M; Wang, Wei-ren; Yan, Lin; Zhao, Chuan-ying; He, Cong-cong; Gao, Xing-Hua; Li, Linhui; Zhang, Shuangxi; Yue, Jianghuan; Wang, Xiuli; Li, Cuiting; Wang, Lulu; Li, Xiaoling; Lin, Aifen; Yan, Wei-Hua; Ouyang, Chaowei; Zhang, Dandan; Lei, Changbin; Morey, Manoviraj Gajendra; Illanad, Gouri H; Rasool, Mahaboobkhan; Chooklin, Serge; Chuklin, Serhii; An, Lina; Han, Yidi; Sun, Xiaohui; Wang, Lili; Guo, Lei; Long, Yu; Li, Dan; Jian, Xuemin; Yang, Zhi; Leng, Ting; Wang, Xilian; Zhang, Wanxue; Ge, Xinyun; Li, Nan; Yin, Yuan; Li, Xiaoan; Wang, Chunying; Zhang, Meihua; Bode, Erik L; Krasniqi, Samanda; Rosenthal, Annika; Friedel, Eva; Schlagenhauf, Florian; Sebold, Miriam; Wei, Hongxia; Li, Zhe; Liu, Zi'ang; Wu, Baofeng; Li, Ru; Xu, Ming; Yang, Xifeng; Yin, Jianhong; Zhang, Yi; Liu, Yunfeng; Kitase, Yukiko; Ji, Jia; Bonewald, Lynda F; Prideaux, Matthew; Roh, Hyun Cheol; Peng, Gang; Lin, Ying; Wen, Deng-tai; Huang, Jianhuang; Wang, Qixiu; Chen, Jianning; Parri, Muralidhar; Singh, Kiratmeet; Xing, Yun; Liu, Jiaxin; Wu, Linrui; Zhang, Ke; Yang, Shengbo; Srisuwan, Tanida; Kornsuthisopon, Chatvadee; Nowwarote, Nunthawan; Zhu, Xiaofei; Dissanayaka, Waruna Lakmal; Osathanon, Thanaphum; Sun, Jingjing; Zhang, Kai; Li, Panpan; Xu, Wenyue; Ding, Kaimo; Zhang, Bidan; Zhao, Bei; Zhang, Danwei; Sirajo, Mujittapha Umar; Obie, Rukevwe; Mukhtar, Abubakar I; Abdullahi, Nasiru M; Taniyohwo, Enaohwo M; Oyem, John C; Badamasi, Ibrahim M; Deb, Vishal Kumar; Mukherjee, Abhishek; Pathak, Surajit; Paul, Sujay; Duttaroy, Asim K; Adhikari, Suman; Gao, Huiquan; Ma, Tao; Jiang, Qinqin; Gao, Lanfang; Li, Jinfang; Wang, Shubo; Liu, Ziyong; Zhang, Zhixin; Wu, Gang; He, Wenxin; Zhou, Fuxin; Xu, XiuRong; Lai, JiuXin; Cheng, Shiming; Shuai, Qi; Tian, Jun; Yang, Wenlong; Huang, Santing; Tutu, Paul; Altamura, Gennaro; Daraban Bocaneti, Florentina; Hritcu, Ozana Maria; Pasca, Aurelian-Sorin; Dascalu, Mihaela Anca; Horodincu, Loredana; Tanase, Oana Irina; Mares, Mihai; Borzacchiello, Giuseppe; Yang, Guanhao; Huang, Xuan; Qiu, Duorun; Wang, Anzhao; Liu, Denghui; Liu, Zhongtang; Nuccio, Daniel A; Grippo, Angela; Singh, Pallavi; Gao, Xiaomeng; Wu, Yihan; Zheng, Ronglian; Kou, Yining; Xing, Huili; Li, Kun; Zhang, Meng; Priyadharshini, Eswaran; Sandhya, Maddi; Anand, Theerthagiri; Angamuthu, Mahalingam; Murugan, Marimuthu; Tharmalingam, Nagendran; Senthilraja, Govindasamy; Meng, Yonghui; He, Jinjun; Yan, An; Che, Bangwei; Tang, Kaifa; Zhang, Tao; Vukić, Dragana; Du, Qiupei; Cherian, Anna; Amoruso, Damiano; Brožinová, Květoslava; Wacheul, Ludivine; Lacovich, Valentina; Zorbas, Christiane; Yadav, Leena; Sedmík, Jiří; Keskitalo, Salla; Hajji, Khadija; Stejskal, Stanislav; Varjosalo, Markku; Lafontaine, Denis L J; Keegan, Liam P; O’Connell, Mary A; Allichon, Marie-Charlotte; Espinosa, Jeanne; Cole, Rebecca H; Ko, Mei-Chuan; Vanhoutte, Peter; Joffe, Max E; Abd El-kader, Marwa; Farrag, Eman A E; El-Gamal, Randa; El Nashar, Eman Mohamed; Alshehri, Areej M; Aldahhan, Rashid A; Al-khater, Khulood M; El-Desouky, Sara; El-Sherbeni, M W; Ebrahim, Neven A; Truitt, Kate; Walsh, McKenna E; Dalton, Michelle R; Cai, Jiali; Zhang, Yaojian; Zhang, Tian; Wu, Mengyi; Wang, Dijun; Yin, Chunyan; Nie, Xueke; Chen, Lan; Sun, Zhihu; Liu, Chanming; Yan, Xiaojing; Kong, Weihao; Wang, Jiawen; Zhang, Kangjie; Wang, Xingyu; Zhang, Jianlin; Sharma, Deepak; Muniyan, Rajiniraja

Management of Early and Metastatic Breast Cancer: A Consensus Statement from Oncologists in Saudi Arabia

早期和转移性乳腺癌的治疗:沙特阿拉伯肿瘤学家的共识声明

Alaklabi, Sabah; Al Refaei, Sadal; Abualkhair, Omalkhair; Abusanad, Atlal; Akhtar, Saad; AlFoheidi, Meteb; Al-Hajeili, Marwan; Al-Tweigeri, Taher; Alhashem, Hashem; Almufti, Roula; Alsayed, Adher; Alshehri, Ahmed; Altwairgi, Abdullah; Alzahrani, Meshari; Basulaiman, Bassam; Chelis, Leonidas; Elsammani, Sherif; Madkhali, Ibrahim; Murshid, Essam; Refae, Ahmed; Suleman, Kauser; Abdelhafiz, Nafisa; Kullab, Sharif

Stroke Awareness and Knowledge Gaps in Saudi Arabia: A Cross-Sectional Study

沙特阿拉伯中风意识及知识差距:一项横断面研究

Althubait, Shorog M; Sarhan, Mohamed H; Alotaibi, Omar A; Alsobhi, Leen S; Albeladi, Turki D; Alabdulwahab, Doha A; Al-Bishr, Sarah M; Alghamdi, Waad R; Sifran, Sultan S; Alhashem, Huda Y; Alhazmi, Rehab E; Al-Sulami, Emad F; Alwadai, Norah M; Alzahrani, Khames

"Preventing vision loss in pediatric otogenic thrombosis: a case report highlighting surgical interventions"

“预防儿童耳源性血栓形成导致的视力丧失:一例强调手术干预的病例报告”

AlMuhanna, Fatimah A; Hakami, Wejdan S; AlHashem, Abdullah M; AlShahwan, Eman; AlHarbi, Yazeed A; AlShafi, Shatha S

ADAT3 variants disrupt the activity of the ADAT tRNA deaminase complex and impair neuronal migration

ADAT3 变体破坏 ADAT tRNA 脱氨酶复合物的活性,并损害神经元迁移。

Del-Pozo-Rodriguez, Jordi; Tilly, Peggy; Lecat, Romain; Vaca, Hugo Rolando; Mosser, Laureline; Brivio, Elena; Balla, Till; Gomes, Marina Vitoria; Ramos-Morales, Elizabeth; Schwaller, Noémie; Salinas-Giegé, Thalia; VanNoy, Grace; England, Eleina M; Kern Lovgren, Alysia; O'Leary, Melanie; Chopra, Maya; Meave Ojeda, Naomi; Toosi, Mehran Beiraghi; Eslahi, Atieh; Alerasool, Masoome; Mojarrad, Majid; Pais, Lynn S; Yeh, Rebecca C; Gable, Dustin L; Hashem, Mais O; Abdulwahab, Firdous; Rakiz Alqurashi, Muath; Sbeih, Loai Z; Adas Blanco, Omar Abu; Khater, Renad Abu; Oprea, Gabriela; Rad, Aboulfazl; Alzaidan, Hamad; Aldhalaan, Hesham; Tous, Ehab; Alsagheir, Afaf; Alowain, Mohammed; Tamim, Abdullah; Alfayez, Khowlah; Alhashem, Amal; Alnuzha, Aisha; Kamel, Mona; Al-Awam, Bashayer S; Elnaggar, Walaa; Almenabawy, Nihal; O'Donnell-Luria, Anne; Neil, Jennifer E; Gleeson, Joseph G; Walsh, Christopher A; Alkuraya, Fowzan S; AlAbdi, Lama; Elkhateeb, Nour; Selim, Laila; Srivastava, Siddharth; Nedialkova, Danny D; Drouard, Laurence; Romier, Christophe; Bayam, Efil; Godin, Juliette D

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

Artificial intelligence in vaccine research and development: an umbrella review

人工智能在疫苗研发中的应用:一项综合性综述

El Arab, Rabie Adel; Alkhunaizi, May; Alhashem, Yousef N; Al Khatib, Alissar; Bubsheet, Munirah; Hassanein, Salwa

Non-Invasive Prenatal Testing in the Kingdom of Saudi Arabia: Current Status of Adoption and Roadmap for the Future

沙特阿拉伯王国无创产前检测:现状及未来发展路线图

Alfadhel, Majid; AlHashem, Amal; Kurdi, Wesam; Tulbah, Maha; AlGamdi, Saleh; Almannai, Mohammed; AlAmoudi, Iman; AlEissa, Mariam M; AlAgil, Nada; Tashkandi, Soha; Awad, Nancy; Ojeil, Rita