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

A programmed decline in ribosome levels governs human early neurodevelopment

核糖体水平的程序性下降控制着人类早期神经发育。

Chunyang Ni # ,Yudong Wei # ,Barbara Vona # ,Dayea Park ,Yulei Wei ,Daniel A Schmitz ,Yi Ding ,Masahiro Sakurai ,Emily Ballard ,Leijie Li ,Yan Liu ,Ashwani Kumar ,Chao Xing ,Shenlu Qin ,Sangin Kim ,Martina Foglizzo ,Jianchao Zhao ,Hyung-Goo Kim ,Cumhur Ekmekci ,Ehsan Ghayoor Karimiani ,Shima Imannezhad ,Fatemeh Eghbal ,Reza Shervin Badv ,Eva Maria Christina Schwaibold ,Mohammadreza Dehghani ,Mohammad Yahya Vahidi Mehrjardi ,Zahra Metanat ,Hosein Eslamiyeh ,Ebtissal Khouj ,Saleh Mohammed Nasser Alhajj ,Aziza Chedrawi ,Khushnooda Ramzan ,Jamil A Hashmi ,Majed M Alluqmani ,Sulman Basit ,Danai Veltra ,Nikolaos M Marinakis ,Georgios Niotakis ,Pelagia Vorgia ,Christalena Sofocleous ,Hane Lee ,Won Chan Jeong ,Muhammad Umair ,Muhammad Bilal ,César Augusto Pinheiro Ferreira Alves ,Matthew Sieber ,Michael Kruer ,Henry Houlden ,Fowzan S Alkuraya ,Elton Zeqiraj ,Roger A Greenberg ,Can Cenik ,Leqian Yu ,Reza Maroofian ,Jun Wu ,Michael Buszczak

Clinical and neuroradiological spectrum of biallelic variants in NOTCH3

NOTCH3基因双等位基因变异的临床和神经放射学表现谱

Iruzubieta, Pablo; Alves, César Augusto Pinheiro Ferreira; Al Shamsi, Aisha M; ElGhazali, Gehad; Zaki, Maha S; Pinelli, Lorenzo; Lopergolo, Diego; Cho, Bernard P H; Jolly, Amy A; Al Futaisi, Amna; Al-Amrani, Fatema; Galli, Jessica; Fazzi, Elisa; Vulin, Katarina; Barajas-Olmos, Francisco; Hengel, Holger; Aljamal, Bayan Mohammed; Nasr, Vahideh; Assarzadegan, Farhad; Ragno, Michele; Trojano, Luigi; Ojeda, Naomi Meave; Çakar, Arman; Bianchi, Silvia; Pescini, Francesca; Poggesi, Anna; Al Tenalji, Amal; Aziz, Majid; Mohammad, Rahema; Chedrawi, Aziza; De Stefano, Nicola; Zifarelli, Giovanni; Schöls, Ludger; Haack, Tobias B; Rebelo, Adriana; Zuchner, Stephan; Koc, Filiz; Griffiths, Lyn R; Orozco, Lorena; Helmes, Karla García; Babaei, Meisam; Bauer, Peter; Chan Jeong, Won; Karimiani, Ehsan Ghayoor; Schmidts, Miriam; Gleeson, Joseph G; Chung, Wendy K; Alkuraya, Fowzan Sami; Shalbafan, Bita; Markus, Hugh S; Houlden, Henry; Maroofian, Reza

An inappropriate decline in ribosome levels drives a diverse set of neurodevelopmental disorders

核糖体水平异常下降会导致多种神经发育障碍。

Ni, Chunyang; Yu, Leqian; Vona, Barbara; Park, Dayea; Wei, Yulei; Schmitz, Daniel A; Wei, Yudong; Ding, Yi; Sakurai, Masahiro; Ballard, Emily; Liu, Yan; Kumar, Ashwani; Xing, Chao; Kim, Hyung-Goo; Ekmekci, Cumhur; Karimiani, Ehsan Ghayoor; Imannezhad, Shima; Eghbal, Fatemeh; Badv, Reza Shervin; Schwaibold, Eva Maria Christina; Dehghani, Mohammadreza; Mehrjardi, Mohammad Yahya Vahidi; Metanat, Zahra; Eslamiyeh, Hosein; Khouj, Ebtissal; Alhajj, Saleh Mohammed Nasser; Chedrawi, Aziza; Alves, César Augusto Pinheiro Ferreira; Houlden, Henry; Kruer, Michael; Alkuraya, Fowzan S; Cenik, Can; Maroofian, Reza; Wu, Jun; Buszczak, Michael

Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition

功能和临床研究揭示了CLCN4相关神经发育障碍的病理生理复杂性

Palmer, Elizabeth E; Pusch, Michael; Picollo, Alessandra; Forwood, Caitlin; Nguyen, Matthew H; Suckow, Vanessa; Gibbons, Jessica; Hoff, Alva; Sigfrid, Lisa; Megarbane, Andre; Nizon, Mathilde; Cogné, Benjamin; Beneteau, Claire; Alkuraya, Fowzan S; Chedrawi, Aziza; Hashem, Mais O; Stamberger, Hannah; Weckhuysen, Sarah; Vanlander, Arnaud; Ceulemans, Berten; Rajagopalan, Sulekha; Nunn, Kenneth; Arpin, Stéphanie; Raynaud, Martine; Motter, Constance S; Ward-Melver, Catherine; Janssens, Katrien; Meuwissen, Marije; Beysen, Diane; Dikow, Nicola; Grimmel, Mona; Haack, Tobias B; Clement, Emma; McTague, Amy; Hunt, David; Townshend, Sharron; Ward, Michelle; Richards, Linda J; Simons, Cas; Costain, Gregory; Dupuis, Lucie; Mendoza-Londono, Roberto; Dudding-Byth, Tracy; Boyle, Jackie; Saunders, Carol; Fleming, Emily; El Chehadeh, Salima; Spitz, Marie-Aude; Piton, Amelie; Gerard, Bénédicte; Abi Warde, Marie-Thérèse; Rea, Gillian; McKenna, Caoimhe; Douzgou, Sofia; Banka, Siddharth; Akman, Cigdem; Bain, Jennifer M; Sands, Tristan T; Wilson, Golder N; Silvertooth, Erin J; Miller, Lauren; Lederer, Damien; Sachdev, Rani; Macintosh, Rebecca; Monestier, Olivier; Karadurmus, Deniz; Collins, Felicity; Carter, Melissa; Rohena, Luis; Willemsen, Marjolein H; Ockeloen, Charlotte W; Pfundt, Rolph; Kroft, Sanne D; Field, Michael; Laranjeira, Francisco E R; Fortuna, Ana M; Soares, Ana R; Michaud, Vincent; Naudion, Sophie; Golla, Sailaja; Weaver, David D; Bird, Lynne M; Friedman, Jennifer; Clowes, Virginia; Joss, Shelagh; Pölsler, Laura; Campeau, Philippe M; Blazo, Maria; Bijlsma, Emilia K; Rosenfeld, Jill A; Beetz, Christian; Powis, Zöe; McWalter, Kirsty; Brandt, Tracy; Torti, Erin; Mathot, Mikaël; Mohammad, Shekeeb S; Armstrong, Ruth; Kalscheuer, Vera M

Beyond a routine blood gas, an easily picked but missed diagnosis of chronic Encephalopathy

除了常规血气分析之外,慢性脑病这种容易发现但却容易被漏诊的疾病也可能被忽视。

AlFaris, Haya S; Elhissi, Ghasan; Chedrawi, Aziza; Al-Muhaizea, Mohammad A

Autozygome and high throughput confirmation of disease genes candidacy

纯合子和高通量疾病基因候选确认

Maddirevula, Sateesh; Alzahrani, Fatema; Al-Owain, Mohammed; Al Muhaizea, Mohammad A; Kayyali, Husam R; AlHashem, Amal; Rahbeeni, Zuhair; Al-Otaibi, Maha; Alzaidan, Hamad I; Balobaid, Ameera; El Khashab, Heba Y; Bubshait, Dalal K; Faden, Maha; Yamani, Suad Al; Dabbagh, Omar; Al-Mureikhi, Mariam; Jasser, Abdulla Al; Alsaif, Hessa S; Alluhaydan, Iram; Seidahmed, Mohammed Zain; Alabbasi, Bashair Hamza; Almogarri, Ibrahim; Kurdi, Wesam; Akleh, Hana; Qari, Alya; Al Tala, Saeed M; Alhomaidi, Suzan; Kentab, Amal Y; Salih, Mustafa A; Chedrawi, Aziza; Alameer, Seham; Tabarki, Brahim; Shamseldin, Hanan E; Patel, Nisha; Ibrahim, Niema; Abdulwahab, Firdous; Samira, Menasria; Goljan, Ewa; Abouelhoda, Mohamed; Meyer, Brian F; Hashem, Mais; Shaheen, Ranad; AlShahwan, Saad; Alfadhel, Majid; Ben-Omran, Tawfeg; Al-Qattan, Mohammad M; Monies, Dorota; Alkuraya, Fowzan S

The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes

基于前1000个诊断样本和外显子组的沙特阿拉伯遗传疾病概况

Monies, Dorota; Abouelhoda, Mohamed; AlSayed, Moeenaldeen; Alhassnan, Zuhair; Alotaibi, Maha; Kayyali, Husam; Al-Owain, Mohammed; Shah, Ayaz; Rahbeeni, Zuhair; Al-Muhaizea, Mohammad A; Alzaidan, Hamad I; Cupler, Edward; Bohlega, Saeed; Faqeih, Eissa; Faden, Maha; Alyounes, Banan; Jaroudi, Dyala; Goljan, Ewa; Elbardisy, Hadeel; Akilan, Asma; Albar, Renad; Aldhalaan, Hesham; Gulab, Shamshad; Chedrawi, Aziza; Al Saud, Bandar K; Kurdi, Wesam; Makhseed, Nawal; Alqasim, Tahani; El Khashab, Heba Y; Al-Mousa, Hamoud; Alhashem, Amal; Kanaan, Imaduddin; Algoufi, Talal; Alsaleem, Khalid; Basha, Talal A; Al-Murshedi, Fathiya; Khan, Sameena; Al-Kindy, Adila; Alnemer, Maha; Al-Hajjar, Sami; Alyamani, Suad; Aldhekri, Hasan; Al-Mehaidib, Ali; Arnaout, Rand; Dabbagh, Omar; Shagrani, Mohammad; Broering, Dieter; Tulbah, Maha; Alqassmi, Amal; Almugbel, Maisoon; AlQuaiz, Mohammed; Alsaman, Abdulaziz; Al-Thihli, Khalid; Sulaiman, Raashda A; Al-Dekhail, Wajeeh; Alsaegh, Abeer; Bashiri, Fahad A; Qari, Alya; Alhomadi, Suzan; Alkuraya, Hisham; Alsebayel, Mohammed; Hamad, Muddathir H; Szonyi, Laszlo; Abaalkhail, Faisal; Al-Mayouf, Sulaiman M; Almojalli, Hamad; Alqadi, Khalid S; Elsiesy, Hussien; Shuaib, Taghreed M; Seidahmed, Mohammed Zain; Abosoudah, Ibraheem; Akleh, Hana; AlGhonaium, Abdulaziz; Alkharfy, Turki M; Al Mutairi, Fuad; Eyaid, Wafa; Alshanbary, Abdullah; Sheikh, Farrukh R; Alsohaibani, Fahad I; Alsonbul, Abdullah; Al Tala, Saeed; Balkhy, Soher; Bassiouni, Randa; Alenizi, Ahmed S; Hussein, Maged H; Hassan, Saeed; Khalil, Mohamed; Tabarki, Brahim; Alshahwan, Saad; Oshi, Amira; Sabr, Yasser; Alsaadoun, Saad; Salih, Mustafa A; Mohamed, Sarar; Sultana, Habiba; Tamim, Abdullah; El-Haj, Moayad; Alshahrani, Saif; Bubshait, Dalal K; Alfadhel, Majid; Faquih, Tariq; El-Kalioby, Mohamed; Subhani, Shazia; Shah, Zeeshan; Moghrabi, Nabil; Meyer, Brian F; Alkuraya, Fowzan S

Epilepsy surgery series: a study of 502 consecutive patients from a developing country

癫痫手术系列研究:一项对来自发展中国家的502例连续患者的研究

Alsemari, Abdulaziz; Al-Otaibi, Faisal; Baz, Salah; Althubaiti, Ibrahim; Aldhalaan, Hisham; Macdonald, David; Abalkhail, Tareq; Fiol, Miguel E; Alyamani, Suad; Chedrawi, Aziza; Leblanc, Frank; Parrent, Andrew; Maclean, Donald; Girvin, John