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Page 1
Expanding the genetic heterogeneity of intellectual disability.
Anazi S, Maddirevula S, Salpietro V, Asi YT, Alsahli S, Alhashem A, Shamseldin HE, AlZahrani F, Patel N, Ibrahim N, Abdulwahab FM, Hashem M, Alhashmi N, Al Murshedi F, Al Kindy A, Alshaer A, Rumayyan A, Al Tala S, Kurdi W, Alsaman A, Alasmari A, Banu S, Sultan T, Saleh MM, Alkuraya H, Salih MA, Aldhalaan H, Ben-Omran T, Al Musafri F, Ali R, Suleiman J, Tabarki B, El-Hattab AW, Bupp C, Alfadhel M, Al Tassan N, Monies D, Arold ST, Abouelhoda M, Lashley T, Houlden H, Faqeih E, Alkuraya FS. Anazi S, et al. Among authors: alkuraya h, alkuraya fs. Hum Genet. 2017 Nov;136(11-12):1419-1429. doi: 10.1007/s00439-017-1843-2. Epub 2017 Sep 22. Hum Genet. 2017. PMID: 28940097 Free article.
Expanding the "E" in CHARGE.
Alazami AM, Alzahrani F, Alkuraya FS. Alazami AM, et al. Among authors: alkuraya fs. Am J Med Genet A. 2008 Jul 15;146A(14):1890-2. doi: 10.1002/ajmg.a.32376. Am J Med Genet A. 2008. PMID: 18553515 No abstract available.
Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome.
Alazami AM, Al-Saif A, Al-Semari A, Bohlega S, Zlitni S, Alzahrani F, Bavi P, Kaya N, Colak D, Khalak H, Baltus A, Peterlin B, Danda S, Bhatia KP, Schneider SA, Sakati N, Walsh CA, Al-Mohanna F, Meyer B, Alkuraya FS. Alazami AM, et al. Among authors: alkuraya fs. Am J Hum Genet. 2008 Dec;83(6):684-91. doi: 10.1016/j.ajhg.2008.10.018. Epub 2008 Nov 20. Am J Hum Genet. 2008. PMID: 19026396 Free PMC article.
Molecular characterization of retinitis pigmentosa in Saudi Arabia.
Aldahmesh MA, Safieh LA, Alkuraya H, Al-Rajhi A, Shamseldin H, Hashem M, Alzahrani F, Khan AO, Alqahtani F, Rahbeeni Z, Alowain M, Khalak H, Al-Hazzaa S, Meyer BF, Alkuraya FS. Aldahmesh MA, et al. Among authors: alkuraya h, alkuraya fs. Mol Vis. 2009 Nov 24;15:2464-9. Mol Vis. 2009. PMID: 19956407 Free PMC article.
Mutation of CANT1 causes Desbuquois dysplasia.
Faden M, Al-Zahrani F, Arafah D, Alkuraya FS. Faden M, et al. Among authors: alkuraya fs. Am J Med Genet A. 2010 May;152A(5):1157-60. doi: 10.1002/ajmg.a.33404. Am J Med Genet A. 2010. PMID: 20425819
605 results