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IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndrome.
Aldahmesh MA, Li Y, Alhashem A, Anazi S, Alkuraya H, Hashem M, Awaji AA, Sogaty S, Alkharashi A, Alzahrani S, Al Hazzaa SA, Xiong Y, Kong S, Sun Z, Alkuraya FS. Aldahmesh MA, et al. Among authors: alkharashi a. Hum Mol Genet. 2014 Jun 15;23(12):3307-15. doi: 10.1093/hmg/ddu044. Epub 2014 Jan 31. Hum Mol Genet. 2014. PMID: 24488770 Free PMC article.
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: alkharashi a. 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.
Phenotypic delineation of the retinal arterial macroaneurysms with supravalvular pulmonic stenosis syndrome.
Alkuraya H, Patel N, Ibrahim N, Al Ghamdi B, Alsulaiman SM, Nowilaty SR, Abboud E, Alturki R, Alkharashi A, Eyaid W, Almasseri Z, Alzaidan H, Alotaibi MD, Abu El-Asrar AM, Alamro B, Helaby R, Elshaer A, Almontashiri NAM, Al-Hussaini AA, Alkuraya FS. Alkuraya H, et al. Among authors: alkharashi a. Clin Genet. 2020 Mar;97(3):447-456. doi: 10.1111/cge.13676. Epub 2019 Dec 2. Clin Genet. 2020. PMID: 31730227
Prognostic factors in Vogt-Koyanagi-Harada disease.
Al-Kharashi AS, Aldibhi H, Al-Fraykh H, Kangave D, Abu El-Asrar AM. Al-Kharashi AS, et al. Int Ophthalmol. 2007 Apr-Jun;27(2-3):201-10. doi: 10.1007/s10792-007-9062-9. Epub 2007 Apr 14. Int Ophthalmol. 2007. PMID: 17435968
Vogt-Koyanagi-Harada disease in children.
Abu El-Asrar AM, Al-Kharashi AS, Aldibhi H, Al-Fraykh H, Kangave D. Abu El-Asrar AM, et al. Eye (Lond). 2008 Sep;22(9):1124-31. doi: 10.1038/sj.eye.6702859. Epub 2007 May 4. Eye (Lond). 2008. PMID: 17479116
35 results