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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. Nat Commun. 2022 Oct 13;13(1):6054. doi: 10.1038/s41467-022-33547-8. Nat Commun. 2022. PMID: 36229431 Free PMC article.
[No title available]
[No authors listed] [No authors listed] PMID: 34005010
Mitchell-Riley syndrome iPSCs exhibit reduced pancreatic endoderm differentiation due to a mutation in RFX6.
Trott J, Alpagu Y, Tan EK, Shboul M, Dawood Y, Elsy M, Wollmann H, Tano V, Bonnard C, Eng S, Narayanan G, Junnarkar S, Wearne S, Strutt J, Kumar A, Tomaz LB, Goy PA, Mzoughi S, Jennings R, Hagoort J, Eskin A, Lee H, Nelson SF, Al-Kazaleh F, El-Khateeb M, Fathallah R, Shah H, Goeke J, Langley SR, Guccione E, Hanley N, De Bakker BS, Reversade B, Dunn NR. Trott J, et al. Development. 2020 Nov 5;147(21):dev194878. doi: 10.1242/dev.194878. Development. 2020. PMID: 33033118
Towards establishing a multiple sclerosis biobank in Jordan.
Ahram M, Zaza R, Ibayyan L, Dahbour S, Bahou Y, El-Omar A, Samhouri B, El-Khateeb M. Ahram M, et al. Int J Neurosci. 2014 Nov;124(11):812-7. doi: 10.3109/00207454.2014.886204. Epub 2014 Feb 28. Int J Neurosci. 2014. PMID: 24456262
143 results