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

Bi-allelic UGGT1 variants cause a congenital disorder of glycosylation.

UGGT1 双等位基因变异会导致先天性糖基化障碍

Dardas Zain, Harrold Laura, Calame Daniel G, Salter Claire G, Kikuma Takashi, Guay Kevin P, Ng Bobby G, Sano Kanae, Saad Ahmad K, Du Haowei, Sangermano Riccardo, Patankar Sohil G, Jhangiani Shalini N, Gürsoy Semra, Abdel-Hamid Mohamed S, Ahmed Mahmoud K H, Maroofian Reza, Kaiyrzhanov Rauan, Salayev Kamran, Jones Wendy D, Pérez Caballero Ana, McGavin Lucy, Spiller Michael, Durkie Miranda, Wood Nick, O'Grady Lauren, Goldenberg Paula, Neumeyer Ann M, Begtrup Amber, Abdel-Ghafar Sherif F, Zaki Maha S, Van Esch Hilde, Posey Jennifer E, Wenger Olivia K, Scott Ethan M, Bujakowska Kinga M, Gibbs Richard A, Pehlivan Davut, Marafi Dana, Leslie Joseph S, Ubeyratna Nishanka, Day Jacob, Owens Martina, Settle Jessica, Balkhy Soher, Tamim Abdullah, Alabdi Lama, Alkuraya Fowzan S, Takeda Yoichi, Freeze Hudson H, Hebert Daniel N, Lupski James R, Crosby Andrew H, Baple Emma L

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

Identifying autism loci and genes by tracing recent shared ancestry

通过追踪近期共同祖先来识别自闭症基因位点和基因

Morrow, Eric M; Yoo, Seung-Yun; Flavell, Steven W; Kim, Tae-Kyung; Lin, Yingxi; Hill, Robert Sean; Mukaddes, Nahit M; Balkhy, Soher; Gascon, Generoso; Hashmi, Asif; Al-Saad, Samira; Ware, Janice; Joseph, Robert M; Greenblatt, Rachel; Gleason, Danielle; Ertelt, Julia A; Apse, Kira A; Bodell, Adria; Partlow, Jennifer N; Barry, Brenda; Yao, Hui; Markianos, Kyriacos; Ferland, Russell J; Greenberg, Michael E; Walsh, Christopher A