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Further delineation of the Van den Ende-Gupta syndrome.
Ali R, Almureikhi M, Al-Musaifri F, Bhat V, Teebi A, Ben-Omran T. Ali R, et al. Among authors: almureikhi m. Am J Med Genet A. 2010 Dec;152A(12):3095-100. doi: 10.1002/ajmg.a.33725. Am J Med Genet A. 2010. PMID: 21108395
Mutations in SCARF2 are responsible for Van Den Ende-Gupta syndrome.
Anastasio N, Ben-Omran T, Teebi A, Ha KC, Lalonde E, Ali R, Almureikhi M, Der Kaloustian VM, Liu J, Rosenblatt DS, Majewski J, Jerome-Majewska LA. Anastasio N, et al. Among authors: almureikhi m. Am J Hum Genet. 2010 Oct 8;87(4):553-9. doi: 10.1016/j.ajhg.2010.09.005. Am J Hum Genet. 2010. PMID: 20887961 Free PMC article.
Clinical exome sequencing in 509 Middle Eastern families with suspected Mendelian diseases: The Qatari experience.
Al-Dewik N, Mohd H, Al-Mureikhi M, Ali R, Al-Mesaifri F, Mahmoud L, Shahbeck N, El-Akouri K, Almulla M, Al Sulaiman R, Musa S, Al-Marri AA, Richard G, Juusola J, Solomon BD, Alkuraya FS, Ben-Omran T. Al-Dewik N, et al. Am J Med Genet A. 2019 Jun;179(6):927-935. doi: 10.1002/ajmg.a.61126. Epub 2019 Mar 27. Am J Med Genet A. 2019. PMID: 30919572 Free PMC article.
Clinical genetics and genomic medicine in Qatar.
Al-Dewik N, Al-Mureikhi M, Shahbeck N, Ali R, Al-Mesaifri F, Mahmoud L, Othman A, AlMulla M, Sulaiman RA, Musa S, Abdoh G, El-Akouri K, Solomon BD, Ben-Omran T. Al-Dewik N, et al. Mol Genet Genomic Med. 2018 Sep;6(5):702-712. doi: 10.1002/mgg3.474. Mol Genet Genomic Med. 2018. PMID: 30264509 Free PMC article.
Further delineation of HIDEA syndrome.
Maddirevula S, Ben-Omran T, AlMureikhi M, Eyaid W, Arabi H, Alkuraya H, Alfaifi A, Alfalah AH, Alsaif HS, Abdulwahab F, Alfadhel M, Alkuraya FS. Maddirevula S, et al. Among authors: almureikhi m. Am J Med Genet A. 2020 Dec;182(12):2999-3006. doi: 10.1002/ajmg.a.61885. Epub 2020 Sep 23. Am J Med Genet A. 2020. PMID: 32965080
26 results