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

Phenotypic Variability of MEGF10 Variants Causing Congenital Myopathy: Report of Two Unrelated Patients from a Highly Consanguineous Population

MEGF10变异导致先天性肌病的表型变异:来自高度近亲结婚人群的两例无关患者的报告

AlMuhaizea, Mohammad; Dabbagh, Omar; AlQudairy, Hanan; AlHargan, Aljouhra; Alotaibi, Wafa; Sami, Ruba; AlOtaibi, Rahaf; Ali, Mariam Mahmoud; AlHindi, Hindi; Colak, Dilek; Kaya, Namik

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

Tuberous Sclerosis Complex: Clinical Spectrum and Epilepsy: A Retrospective Chart Review Study

结节性硬化症:临床表现谱与癫痫:一项回顾性病历分析研究

Almobarak, Sulaiman; Almuhaizea, Mohammad; Abukhaled, Musaad; Alyamani, Suad; Dabbagh, Omar; Chedrawi, Aziza; Khan, Sameena; Aldhalaan, Hesham

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

Lethal digenic mutations in the K(+) channels Kir4.1 (KCNJ10) and SLACK (KCNT1) associated with severe-disabling seizures and neurodevelopmental delay.

K(+)通道Kir4.1 (KCNJ10)和SLACK (KCNT1)的致命双基因突变与严重的致残性癫痫和神经发育迟缓有关

Hasan Sonia, Balobaid Ameera, Grottesi Alessandro, Dabbagh Omar, Cenciarini Marta, Rawashdeh Rifaat, Al-Sagheir Afaf, Bove Cecilia, Macchioni Lara, Pessia Mauro, Al-Owain Mohammed, D'Adamo Maria Cristina

Paroxysmal autonomic instability with dystonia after pneumococcal meningoencephalitis

肺炎球菌性脑膜脑炎后出现阵发性自主神经功能紊乱伴肌张力障碍

Safadieh, Layal; Sharara-Chami, Rana; Dabbagh, Omar