DALRD3 encodes a protein mutated in epileptic encephalopathy that targets arginine tRNAs for 3-methylcytosine modification

by Jenna M. Lentini, Hessa S. Alsaif, Eissa Faqeih, Fowzan S. Alkuraya, Dragony Fu
Published 2020-05-01

A serendipitous discovery: an adult case of congenital generalized lipodystrophy

by Abdul Rehman Zia Zaidi, Asma Sikander, Eissa Faqeih, Njoud Abdulrahman Alhowar, Mohammed Abdullah AlSheef
Published 2020-03-01

Evaluation of long-term effectiveness of the use of carglumic acid in patients with propionic acidemia (PA) or methylmalonic acidemia (MMA): study protocol for a randomized control...

by Marwan Nashabat, Abdulrahman Obaid, Fuad Al Mutairi, Mohammed Saleh, Mohammed Elamin, Hind Ahmed, Faroug Ababneh, Wafaa Eyaid, Abdulrahman Alswaid, Lina Alohali, Eissa Faqeih, Majed Aljeraisy, Mohamed A. Hussein, Ali Alasmari, Majid Alfadhel
Published 2019-06-01

Spectrum of mutations underlying Propionic acidemia and further insight into a genotype-phenotype correlation for the common mutation in Saudi Arabia

by Mohamed H. Al-Hamed, Faiqa Imtiaz, Zuhair Al-Hassnan, Mohammed Al-Owain, Hamad Al-Zaidan, Mohamed S. Alamoudi, Eissa Faqeih, Majid Alfadhel, Ali Al-Asmari, M.M. Saleh, Fuad Almutairi, Nabil Moghrabi, Moeenaldeen AlSayed
Published 2019-03-01

Clinical, neuroimaging, and genetic features of L-2-hydroxyglutaric aciduria in Arab kindreds

by Muhammad Faiyaz-Ul-Haque, Moeenaldeen D. Al-Sayed, Eissa Faqeih, Masood Jamil, Anjum Saeed, Mohamed Saleh Amoudi, Namik Kaya, Halah Abalkhail, Ahmed Al-Abdullatif, Mohamed Rashed, Mohammed Al-Owain, Iskra Peltekova, Syed HE Zaidi
Published 2014-03-01

Mutations in HYAL2, Encoding Hyaluronidase 2, Cause a Syndrome of Orofacial Clefting and Cor Triatriatum Sinister in Humans and Mice.

by Martina M A Muggenthaler, Biswajit Chowdhury, S Naimul Hasan, Harold E Cross, Brian Mark, Gaurav V Harlalka, Michael A Patton, Miho Ishida, Elijah R Behr, Sanjay Sharma, Kenneth Zahka, Eissa Faqeih, Brian Blakley, Mike Jackson, Melissa Lees, Vernon Dolinsky, Leroy Cross, Philip Stanier, Claire Salter, Emma L Baple, Fowzan S Alkuraya, Andrew H Crosby, Barbara Triggs-Raine, Barry A Chioza
Published 2017-01-01

Exploiting the Autozygome to Support Previously Published Mendelian Gene-Disease Associations: An Update

by Sateesh Maddirevula, Hanan E. Shamseldin, Amy Sirr, Lama AlAbdi, Lama AlAbdi, Russell S. Lo, Nour Ewida, Mashael Al-Qahtani, Mais Hashem, Firdous Abdulwahab, Omar Aboyousef, Namik Kaya, Dorota Monies, May H. Salem, Naffaa Al Harbi, Hesham M. Aldhalaan, Hamad Alzaidan, Hamad Alzaidan, Hadeel M. Almanea, Abrar K. Alsalamah, Fuad Al Mutairi, Samira Ismail, Ghada M. H. Abdel-Salam, Amal Alhashem, Amal Alhashem, Ali Asery, Eissa Faqeih, Amal AlQassmi, Waleed Al-Hamoudi, Talal Algoufi, Mohammad Shagrani, Mohammad Shagrani, Aimée M. Dudley, Fowzan S. Alkuraya, Fowzan S. Alkuraya
Published 2020-12-01

The Leukodystrophy Spectrum in Saudi Arabia: Epidemiological, Clinical, Radiological, and Genetic Data

by Majid Alfadhel, Majid Alfadhel, Majid Alfadhel, Mohammed Almuqbil, Mohammed Almuqbil, Fuad Al Mutairi, Fuad Al Mutairi, Muhammad Umair, Mohammed Almannai, Malak Alghamdi, Hamad Althiyab, Rayyan Albarakati, Fahad A. Bashiri, Walaa Alshuaibi, Duaa Ba-Armah, Duaa Ba-Armah, Mohammed A. Saleh, Ali Al-Asmari, Eissa Faqeih, Waleed Altuwaijri, Waleed Altuwaijri, Ahmed Al-Rumayyan, Ahmed Al-Rumayyan, Mohammed Ali Balwi, Mohammed Ali Balwi, Faroug Ababneh, Abdulrahman Faiz Alswaid, Abdulrahman Faiz Alswaid, Wafaa M. Eyaid, Wafaa M. Eyaid, Naif A. M. Almontashiri, Naif A. M. Almontashiri, Amal Alhashem, Amal Alhashem, Khalid Hundallah, Aida Bertoli-Avella, Peter Bauer, Christian Beetz, Muhammad Talal Alrifai, Muhammad Talal Alrifai, Ahmed Alfares, Ahmed Alfares, Brahim Tabarki
Published 2021-05-01

Accelerating Novel Candidate Gene Discovery in Neurogenetic Disorders via Whole-Exome Sequencing of Prescreened Multiplex Consanguineous Families

by Anas M. Alazami, Nisha Patel, Hanan E. Shamseldin, Shamsa Anazi, Mohammed S. Al-Dosari, Fatema Alzahrani, Hadia Hijazi, Muneera Alshammari, Mohammed A. Aldahmesh, Mustafa A. Salih, Eissa Faqeih, Amal Alhashem, Fahad A. Bashiri, Mohammed Al-Owain, Amal Y. Kentab, Sameera Sogaty, Saeed Al Tala, Mohamad-Hani Temsah, Maha Tulbah, Rasha F. Aljelaify, Saad A. Alshahwan, Mohammed Zain Seidahmed, Adnan A. Alhadid, Hesham Aldhalaan, Fatema AlQallaf, Wesam Kurdi, Majid Alfadhel, Zainab Babay, Mohammad Alsogheer, Namik Kaya, Zuhair N. Al-Hassnan, Ghada M.H. Abdel-Salam, Nouriya Al-Sannaa, Fuad Al Mutairi, Heba Y. El Khashab, Saeed Bohlega, Xiaofei Jia, Henry C. Nguyen, Rakad Hammami, Nouran Adly, Jawahir Y. Mohamed, Firdous Abdulwahab, Niema Ibrahim, Ewa A. Naim, Banan Al-Younes, Brian F. Meyer, Mais Hashem, Ranad Shaheen, Yong Xiong, Mohamed Abouelhoda, Abdulrahman A. Aldeeri, Dorota M. Monies, Fowzan S. Alkuraya
Published 2015-01-01