Further Delineation of the Clinical Phenotype of Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome Type 4

Por Alsahli, Saud, Alrifai, Muhammad Talal, Al Tala, Saeed, Mutairi, Fuad Al, Alfadhel, Majid
Publicado no J Cent Nerv Syst Dis (2018)

Guidelines for acute management of hyperammonemia in the Middle East region

Por Alfadhel, Majid, Mutairi, Fuad Al, Makhseed, Nawal, Jasmi, Fatma Al, Al-Thihli, Khalid, Al-Jishi, Emtithal, AlSayed, Moeenaldeen, Al-Hassnan, Zuhair N, Al-Murshedi, Fathiya, Häberle, Johannes, Ben-Omran, Tawfeg
Publicado no Ther Clin Risk Manag (2016)

Mutation in SLC6A9 encoding a glycine transporter causes a novel form of non-ketotic hyperglycinemia in humans

Por Alfadhel, Majid, Nashabat, Marwan, Qahtani, Hanan Al, Alfares, Ahmed, Mutairi, Fuad Al, Shaalan, Hesham Al, Douglas, Ganka V., Wierenga, Klaas, Juusola, Jane, Alrifai, Muhammad Talal, Arold, Stefan T., Alkuraya, Fowzan, Ali, Qais Abu
Publicado no Hum Genet (2016)

Loss of FOCAD, operating via the SKI messenger RNA surveillance pathway, causes a pediatric syndrome with liver cirrhosis

Por Traspas, Ricardo Moreno, Teoh, Tze Shin, Wong, Pui-Mun, Maier, Michael, Chia, Crystal Y., Lay, Kenneth, Ali, Nur Ain, Larson, Austin, Mutairi, Fuad Al, Al-Sannaa, Nouriya Abbas, Faqeih, Eissa Ali, Alfadhel, Majid, Cheema, Huma Arshad, Dupont, Juliette, Bézieau, Stéphane, Isidor, Bertrand, Yanwen Low, Dorrain, Wang, Yulan, Tan, Grace, Lai, Poh San, Piloquet, Hugues, Joubert, Madeleine, Kayserili, Hulya, Kripps, Kimberly A., Nahas, Shareef A., Wartchow, Eric P., Warren, Mikako, Bhavani, Gandham SriLakshmi, Dasouki, Majed, Sandoval, Renata, Carvalho, Elisa, Ramos, Luiza, Porta, Gilda, Wu, Bin, Lashkari, Harsha Prasada, AlSaleem, Badr, BaAbbad, Raeda M., Abreu Ferrão, Anabela Natália, Karageorgou, Vasiliki, Ordonez-Herrera, Natalia, Khan, Suliman, Bauer, Peter, Cogne, Benjamin, Bertoli-Avella, Aida M., Vincent, Marie, Girisha, Katta Mohan, Reversade, Bruno
Publicado no Nat Genet (2022)