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Page 1
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. Among authors: shahbeck n. 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.
Aspartylglucosaminuria: unusual neonatal presentation in Qatari twins with a novel aspartylglucosaminidase gene mutation and 3 new cases in a Turkish family.
Opladen T, Ebinger F, Zschocke J, Sengupta D, Ben-Omran T, Shahbeck N, Moog U, Fischer C, Bürger F, Haas D, Ruef P, Harting I, Al-Rifai H, Hoffmann GF. Opladen T, et al. Among authors: shahbeck n. J Child Neurol. 2014 Jan;29(1):36-42. doi: 10.1177/0883073812469049. Epub 2012 Dec 26. J Child Neurol. 2014. PMID: 23271757
Secondary NAD+ deficiency in the inherited defect of glutamine synthetase.
Hu L, Ibrahim K, Stucki M, Frapolli M, Shahbeck N, Chaudhry FA, Görg B, Häussinger D, Penberthy WT, Ben-Omran T, Häberle J. Hu L, et al. Among authors: shahbeck n. J Inherit Metab Dis. 2015 Nov;38(6):1075-83. doi: 10.1007/s10545-015-9846-4. Epub 2015 Apr 21. J Inherit Metab Dis. 2015. PMID: 25896882 Free 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. Among authors: shahbeck n. 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.
Natural history, with clinical, biochemical, and molecular characterization of classical homocystinuria in the Qatari population.
Al-Dewik N, Ali A, Mahmoud Y, Shahbeck N, Ali R, Mahmoud L, Al-Mureikhi M, Al-Mesaifri F, Musa S, El-Akouri K, Almulla M, Al Saadi R, Nasrallah GK, Samara M, Abdoh G, Rifai HA, Häberle J, Thöny B, Kruger W, Blom HJ, Ben-Omran T. Al-Dewik N, et al. Among authors: shahbeck n. J Inherit Metab Dis. 2019 Sep;42(5):818-830. doi: 10.1002/jimd.12099. Epub 2019 May 8. J Inherit Metab Dis. 2019. PMID: 30968424 Free article.
A founder RAB27A variant causes Griscelli syndrome type 2 with phenotypic heterogeneity in Qatari families.
Al-Sulaiman R, Othman A, El-Akouri K, Fareed S, AlMulla H, Sukik A, Al-Mureikhi M, Shahbeck N, Ali R, Al-Mesaifri F, Musa S, Al-Mulla M, Ibrahim K, Mohamed K, Al-Nesef MA, Ehlayel M, Ben-Omran T. Al-Sulaiman R, et al. Among authors: shahbeck n. Am J Med Genet A. 2020 Nov;182(11):2570-2580. doi: 10.1002/ajmg.a.61829. Epub 2020 Aug 28. Am J Med Genet A. 2020. PMID: 32856792
15 results