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ThalassoChip, an array mutation and single nucleotide polymorphism detection tool for the diagnosis of β-thalassaemia.
Shammas C, Papasavva T, Felekis X, Christophorou C, Roomere H, Synodinos JT, Kanavakis E, El-Khateeb M, Hamamy H, Mahmoud T, Shboul M, El Beshlawy A, Filon D, Hussein IR, Galanello R, Romeo G, Kleanthous M. Shammas C, et al. Among authors: hamamy h. Clin Chem Lab Med. 2010 Dec;48(12):1713-8. doi: 10.1515/CCLM.2010.331. Epub 2010 Aug 13. Clin Chem Lab Med. 2010. PMID: 20704537
Congenital insensitivity to pain with anhidrosis syndrome: A series from Jordan.
Masri A, Shboul M, Khasawneh A, Jadallah R, ALmustafa A, Escande-Beillard N, Hamamy H, Bakri F, Reversade B. Masri A, et al. Among authors: hamamy h. Clin Neurol Neurosurg. 2020 Feb;189:105636. doi: 10.1016/j.clineuro.2019.105636. Epub 2019 Dec 9. Clin Neurol Neurosurg. 2020. PMID: 31841741
Sanjad Sakati syndrome: a case series from Jordan.
Albaramki J, Akl K, Al-Muhtaseb A, Al-Shboul M, Mahmoud T, El-Khateeb M, Hamamy H. Albaramki J, et al. Among authors: hamamy h. East Mediterr Health J. 2012 May;18(5):527-31. doi: 10.26719/2012.18.5.527. East Mediterr Health J. 2012. PMID: 22764442 Free article.
Katanin p80 regulates human cortical development by limiting centriole and cilia number.
Hu WF, Pomp O, Ben-Omran T, Kodani A, Henke K, Mochida GH, Yu TW, Woodworth MB, Bonnard C, Raj GS, Tan TT, Hamamy H, Masri A, Shboul M, Al Saffar M, Partlow JN, Al-Dosari M, Alazami A, Alowain M, Alkuraya FS, Reiter JF, Harris MP, Reversade B, Walsh CA. Hu WF, et al. Among authors: hamamy h. Neuron. 2014 Dec 17;84(6):1240-57. doi: 10.1016/j.neuron.2014.12.017. Neuron. 2014. PMID: 25521379 Free PMC article.
INTS13 variants causing a recessive developmental ciliopathy disrupt assembly of the Integrator complex.
Mascibroda LG, Shboul M, Elrod ND, Colleaux L, Hamamy H, Huang KL, Peart N, Singh MK, Lee H, Merriman B, Jodoin JN, Sitaram P, Lee LA, Fathalla R, Al-Rawashdeh B, Ababneh O, El-Khateeb M, Escande-Beillard N, Nelson SF, Wu Y, Tong L, Kenney LJ, Roy S, Russell WK, Amiel J, Reversade B, Wagner EJ. Mascibroda LG, et al. Among authors: hamamy h. Nat Commun. 2022 Oct 13;13(1):6054. doi: 10.1038/s41467-022-33547-8. Nat Commun. 2022. PMID: 36229431 Free PMC article.
Mutations in PYCR1 cause cutis laxa with progeroid features.
Reversade B, Escande-Beillard N, Dimopoulou A, Fischer B, Chng SC, Li Y, Shboul M, Tham PY, Kayserili H, Al-Gazali L, Shahwan M, Brancati F, Lee H, O'Connor BD, Schmidt-von Kegler M, Merriman B, Nelson SF, Masri A, Alkazaleh F, Guerra D, Ferrari P, Nanda A, Rajab A, Markie D, Gray M, Nelson J, Grix A, Sommer A, Savarirayan R, Janecke AR, Steichen E, Sillence D, Hausser I, Budde B, Nürnberg G, Nürnberg P, Seemann P, Kunkel D, Zambruno G, Dallapiccola B, Schuelke M, Robertson S, Hamamy H, Wollnik B, Van Maldergem L, Mundlos S, Kornak U. Reversade B, et al. Among authors: hamamy h. Nat Genet. 2009 Sep;41(9):1016-21. doi: 10.1038/ng.413. Epub 2009 Aug 2. Nat Genet. 2009. PMID: 19648921
97 results