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

Identification and In Silico Analysis of a Homozygous Nonsense Variant in TGM1 Gene Segregating with Congenital Ichthyosis in a Consanguineous Family

在近亲婚配家族中,鉴定并进行计算机模拟分析TGM1基因中与先天性鱼鳞病分离的纯合无义变异。

Almazroea, Abdulhadi; Ijaz, Ambreen; Aziz, Abdul; Mushtaq Yasinzai, Muhammad; Rafiullah, Rafiullah; Rehman, Fazal Ur; Daud, Shakeela; Shaikh, Rozeena; Ayub, Muhammad; Wali, Abdul

Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population

从高度近亲结婚人群的大规模、一级临床外显子组测序中汲取的经验教训

Monies, Dorota; Abouelhoda, Mohammed; Assoum, Mirna; Moghrabi, Nabil; Rafiullah, Rafiullah; Almontashiri, Naif; Alowain, Mohammed; Alzaidan, Hamad; Alsayed, Moeen; Subhani, Shazia; Cupler, Edward; Faden, Maha; Alhashem, Amal; Qari, Alya; Chedrawi, Aziza; Aldhalaan, Hisham; Kurdi, Wesam; Khan, Sameena; Rahbeeni, Zuhair; Alotaibi, Maha; Goljan, Ewa; Elbardisy, Hadeel; ElKalioby, Mohamed; Shah, Zeeshan; Alruwaili, Hibah; Jaafar, Amal; Albar, Ranad; Akilan, Asma; Tayeb, Hamsa; Tahir, Asma; Fawzy, Mohammed; Nasr, Mohammed; Makki, Shaza; Alfaifi, Abdullah; Akleh, Hanna; Yamani, Suad; Bubshait, Dalal; Mahnashi, Mohammed; Basha, Talal; Alsagheir, Afaf; Abu Khaled, Musad; Alsaleem, Khalid; Almugbel, Maisoon; Badawi, Manal; Bashiri, Fahad; Bohlega, Saeed; Sulaiman, Raashida; Tous, Ehab; Ahmed, Syed; Algoufi, Talal; Al-Mousa, Hamoud; Alaki, Emadia; Alhumaidi, Susan; Alghamdi, Hadeel; Alghamdi, Malak; Sahly, Ahmed; Nahrir, Shapar; Al-Ahmari, Ali; Alkuraya, Hisham; Almehaidib, Ali; Abanemai, Mohammed; Alsohaibaini, Fahad; Alsaud, Bandar; Arnaout, Rand; Abdel-Salam, Ghada M H; Aldhekri, Hasan; AlKhater, Suzan; Alqadi, Khalid; Alsabban, Essam; Alshareef, Turki; Awartani, Khalid; Banjar, Hanaa; Alsahan, Nada; Abosoudah, Ibraheem; Alashwal, Abdullah; Aldekhail, Wajeeh; Alhajjar, Sami; Al-Mayouf, Sulaiman; Alsemari, Abdulaziz; Alshuaibi, Walaa; Altala, Saeed; Altalhi, Abdulhadi; Baz, Salah; Hamad, Muddathir; Abalkhail, Tariq; Alenazi, Badi; Alkaff, Alya; Almohareb, Fahad; Al Mutairi, Fuad; Alsaleh, Mona; Alsonbul, Abdullah; Alzelaye, Somaya; Bahzad, Shakir; Manee, Abdulaziz Bin; Jarrad, Ola; Meriki, Neama; Albeirouti, Bassem; Alqasmi, Amal; AlBalwi, Mohammed; Makhseed, Nawal; Hassan, Saeed; Salih, Isam; Salih, Mustafa A; Shaheen, Marwan; Sermin, Saadeh; Shahrukh, Shamsad; Hashmi, Shahrukh; Shawli, Ayman; Tajuddin, Ameen; Tamim, Abdullah; Alnahari, Ahmed; Ghemlas, Ibrahim; Hussein, Maged; Wali, Sami; Murad, Hatem; Meyer, Brian F; Alkuraya, Fowzan S

Sex Hormones Regulate SHANK Expression

性激素调节SHANK表达

Simone Berkel, Ahmed Eltokhi, Henning Fröhlich, Diana Porras-Gonzalez, Rafiullah Rafiullah, Rolf Sprengel, Gudrun A Rappold

A novel homozygous ARL13B variant in patients with Joubert syndrome impairs its guanine nucleotide-exchange factor activity.

Joubert 综合征患者中一种新的纯合 ARL13B 变异会损害其鸟嘌呤核苷酸交换因子活性

Rafiullah Rafiullah, Long Alyssa B, Ivanova Anna A, Ali Hazrat, Berkel Simone, Mustafa Ghulam, Paramasivam Nagarajan, Schlesner Matthias, Wiemann Stefan, Wade Rebecca C, Bolthauser Eugen, Blum Martin, Kahn Richard A, Caspary Tamara, Rappold Gudrun A