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Page 1
Molecular characterization of Joubert syndrome in Saudi Arabia.
Alazami AM, Alshammari MJ, Salih MA, Alzahrani F, Hijazi H, Seidahmed MZ, Abu Safieh L, Aldosary M, Khan AO, Alkuraya FS. Alazami AM, et al. Among authors: hijazi h. Hum Mutat. 2012 Oct;33(10):1423-8. doi: 10.1002/humu.22134. Epub 2012 Jul 11. Hum Mutat. 2012. PMID: 22693042
Mutations in ALDH1A3 cause microphthalmia.
Aldahmesh MA, Khan AO, Hijazi H, Alkuraya FS. Aldahmesh MA, et al. Among authors: hijazi h. Clin Genet. 2013 Aug;84(2):128-31. doi: 10.1111/cge.12184. Epub 2013 May 27. Clin Genet. 2013. PMID: 23646827
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. Among authors: hijazi h. 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.
121 results