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Protein-truncating mutations in ASPM cause variable reduction in brain size.
Bond J, Scott S, Hampshire DJ, Springell K, Corry P, Abramowicz MJ, Mochida GH, Hennekam RC, Maher ER, Fryns JP, Alswaid A, Jafri H, Rashid Y, Mubaidin A, Walsh CA, Roberts E, Woods CG. Bond J, et al. Am J Hum Genet. 2003 Nov;73(5):1170-7. doi: 10.1086/379085. Epub 2003 Oct 21. Am J Hum Genet. 2003. PMID: 14574646 Free PMC article.
Multiple sclerosis in Arabs in Jordan.
al-Din AS, el-Khateeb M, Kurdi A, Mubaidin A, Wriekat A, al-Shehab A, Khalil RW. al-Din AS, et al. J Neurol Sci. 1995 Aug;131(2):144-9. doi: 10.1016/0022-510x(95)00092-g. J Neurol Sci. 1995. PMID: 7595639
Distal hereditary motor neuronopathy of the Jerash type is caused by a novel SIGMAR1 c.500A>T missense mutation.
Ververis A, Dajani R, Koutsou P, Aloqaily A, Nelson-Williams C, Loring E, Arafat A, Mubaidin AF, Horany K, Bader MB, Al-Baho Y, Ali B, Muhtaseb A, DeSpenza T Jr, Al-Qudah AA, Middleton LT, Zamba-Papanicolaou E, Lifton R, Christodoulou K. Ververis A, et al. Among authors: mubaidin af. J Med Genet. 2020 Mar;57(3):178-186. doi: 10.1136/jmedgenet-2019-106108. Epub 2019 Sep 11. J Med Genet. 2020. PMID: 31511340 Free PMC article.
23 results