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Page 1
5-Oxoprolinase deficiency: report of the first human OPLAH mutation.
Almaghlouth IA, Mohamed JY, Al-Amoudi M, Al-Ahaidib L, Al-Odaib A, Alkuraya FS. Almaghlouth IA, et al. Among authors: alkuraya fs. Clin Genet. 2012 Aug;82(2):193-6. doi: 10.1111/j.1399-0004.2011.01728.x. Epub 2011 Jun 30. Clin Genet. 2012. PMID: 21651516
Identification of ADAMTS18 as a gene mutated in Knobloch syndrome.
Aldahmesh MA, Khan AO, Mohamed JY, Alkuraya H, Ahmed H, Bobis S, Al-Mesfer S, Alkuraya FS. Aldahmesh MA, et al. Among authors: alkuraya h, alkuraya fs. J Med Genet. 2011 Sep;48(9):597-601. doi: 10.1136/jmedgenet-2011-100306. J Med Genet. 2011. PMID: 21862674
Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes.
Abu-Safieh L, Alrashed M, Anazi S, Alkuraya H, Khan AO, Al-Owain M, Al-Zahrani J, Al-Abdi L, Hashem M, Al-Tarimi S, Sebai MA, Shamia A, Ray-Zack MD, Nassan M, Al-Hassnan ZN, Rahbeeni Z, Waheeb S, Alkharashi A, Abboud E, Al-Hazzaa SA, Alkuraya FS. Abu-Safieh L, et al. Among authors: alkuraya h, alkuraya fs. Genome Res. 2013 Feb;23(2):236-47. doi: 10.1101/gr.144105.112. Epub 2012 Oct 26. Genome Res. 2013. PMID: 23105016 Free PMC article.
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: alkuraya h, alkuraya fs. 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.
606 results