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The distinct ophthalmic phenotype of Knobloch syndrome in children.
Khan AO, Aldahmesh MA, Mohamed JY, Al-Mesfer S, Alkuraya FS. Khan AO, et al. Among authors: alkuraya fs. Br J Ophthalmol. 2012 Jun;96(6):890-5. doi: 10.1136/bjophthalmol-2011-301396. Epub 2012 Mar 7. Br J Ophthalmol. 2012. PMID: 22399687
The RPGRIP1-related retinal phenotype in children.
Khan AO, Abu-Safieh L, Eisenberger T, Bolz HJ, Alkuraya FS. Khan AO, et al. Among authors: alkuraya fs. Br J Ophthalmol. 2013 Jun;97(6):760-4. doi: 10.1136/bjophthalmol-2012-303050. Epub 2013 Mar 16. Br J Ophthalmol. 2013. PMID: 23505306
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.
Clinical Characterization of LRPAP1-Related Pediatric High Myopia.
Khan AO, Aldahmesh MA, Alkuraya FS. Khan AO, et al. Among authors: alkuraya fs. Ophthalmology. 2016 Feb;123(2):434-435. doi: 10.1016/j.ophtha.2015.06.051. Epub 2015 Aug 11. Ophthalmology. 2016. PMID: 26271838 No abstract available.
Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies.
Patel N, Aldahmesh MA, Alkuraya H, Anazi S, Alsharif H, Khan AO, Sunker A, Al-Mohsen S, Abboud EB, Nowilaty SR, Alowain M, Al-Zaidan H, Al-Saud B, Alasmari A, Abdel-Salam GM, Abouelhoda M, Abdulwahab FM, Ibrahim N, Naim E, Al-Younes B, E AlMostafa A, AlIssa A, Hashem M, Buzovetsky O, Xiong Y, Monies D, Altassan N, Shaheen R, Al-Hazzaa SA, Alkuraya FS. Patel N, et al. Among authors: alkuraya h, alkuraya fs. Genet Med. 2016 Jun;18(6):554-62. doi: 10.1038/gim.2015.127. Epub 2015 Sep 10. Genet Med. 2016. PMID: 26355662 Free article.
610 results