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182 results
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Novel recessive BFSP2 and PITX3 mutations: insights into mutational mechanisms from consanguineous populations.
Aldahmesh MA, Khan AO, Mohamed J, Alkuraya FS. Aldahmesh MA, et al. Among authors: mohamed j. Genet Med. 2011 Nov;13(11):978-81. doi: 10.1097/GIM.0b013e31822623d5. Genet Med. 2011. PMID: 21836522
A novel syndrome of Klippel-Feil anomaly, myopathy, and characteristic facies is linked to a null mutation in MYO18B.
Alazami AM, Kentab AY, Faqeih E, Mohamed JY, Alkhalidi H, Hijazi H, Alkuraya FS. Alazami AM, et al. J Med Genet. 2015 Jun;52(6):400-4. doi: 10.1136/jmedgenet-2014-102964. Epub 2015 Mar 6. J Med Genet. 2015. PMID: 25748484
Clinical and molecular analysis of children with central pulverulent cataract from the Arabian Peninsula.
Khan AO, Aldahmesh MA, Mohamed JY, Alkuraya FS. Khan AO, et al. Br J Ophthalmol. 2012 May;96(5):650-5. doi: 10.1136/bjophthalmol-2011-301053. Epub 2012 Jan 19. Br J Ophthalmol. 2012. PMID: 22267527
Corneal enlargement without optic disk cupping in children with recessive CYP1B1 mutations.
Khan AO, Aldahmesh MA, Mohamed JY, Alkuraya FS. Khan AO, et al. J AAPOS. 2013 Dec;17(6):643-5. doi: 10.1016/j.jaapos.2013.08.004. Epub 2013 Nov 7. J AAPOS. 2013. PMID: 24210336
Mutations in LRPAP1 are associated with severe myopia in humans.
Aldahmesh MA, Khan AO, Alkuraya H, Adly N, Anazi S, Al-Saleh AA, Mohamed JY, Hijazi H, Prabakaran S, Tacke M, Al-Khrashi A, Hashem M, Reinheckel T, Assiri A, Alkuraya FS. Aldahmesh MA, et al. Am J Hum Genet. 2013 Aug 8;93(2):313-20. doi: 10.1016/j.ajhg.2013.06.002. Epub 2013 Jul 3. Am J Hum Genet. 2013. PMID: 23830514 Free PMC article.
The syndrome of microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) is caused by mutations in ADAMTS18.
Aldahmesh MA, Alshammari MJ, Khan AO, Mohamed JY, Alhabib FA, Alkuraya FS. Aldahmesh MA, et al. Among authors: mohamed jy. Hum Mutat. 2013 Sep;34(9):1195-9. doi: 10.1002/humu.22374. Epub 2013 Jul 19. Hum Mutat. 2013. PMID: 23818446
Mutation in ADAT3, encoding adenosine deaminase acting on transfer RNA, causes intellectual disability and strabismus.
Alazami AM, Hijazi H, Al-Dosari MS, Shaheen R, Hashem A, Aldahmesh MA, Mohamed JY, Kentab A, Salih MA, Awaji A, Masoodi TA, Alkuraya FS. Alazami AM, et al. J Med Genet. 2013 Jul;50(7):425-30. doi: 10.1136/jmedgenet-2012-101378. Epub 2013 Apr 25. J Med Genet. 2013. PMID: 23620220
Mutations in MEOX1, encoding mesenchyme homeobox 1, cause Klippel-Feil anomaly.
Mohamed JY, Faqeih E, Alsiddiky A, Alshammari MJ, Ibrahim NA, Alkuraya FS. Mohamed JY, et al. Am J Hum Genet. 2013 Jan 10;92(1):157-61. doi: 10.1016/j.ajhg.2012.11.016. Epub 2013 Jan 3. Am J Hum Genet. 2013. PMID: 23290072 Free PMC article.
CYP1B1 analysis of unilateral primary newborn glaucoma in Saudi children.
Khan AO, Aldahmesh MA, Mohamed JY, Hijazi H, Alkuraya FS. Khan AO, et al. J AAPOS. 2012 Dec;16(6):571-2. doi: 10.1016/j.jaapos.2012.07.007. Epub 2012 Nov 14. J AAPOS. 2012. PMID: 23158549
Genomic analysis of pediatric cataract in Saudi Arabia reveals novel candidate disease genes.
Aldahmesh MA, Khan AO, Mohamed JY, Hijazi H, Al-Owain M, Alswaid A, Alkuraya FS. Aldahmesh MA, et al. Genet Med. 2012 Dec;14(12):955-62. doi: 10.1038/gim.2012.86. Epub 2012 Aug 30. Genet Med. 2012. PMID: 22935719
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