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PLXNA2 as a candidate gene in patients with intellectual disability.
Altuame FD, Shamseldin HE, Albatti TH, Hashem M, Ewida N, Abdulwahab F, Alkuraya FS. Altuame FD, et al. Among authors: alkuraya fs. Am J Med Genet A. 2021 Dec;185(12):3859-3865. doi: 10.1002/ajmg.a.62440. Epub 2021 Jul 29. Am J Med Genet A. 2021. PMID: 34327814
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.
Zellweger syndrome caused by PEX13 deficiency: report of two novel mutations.
Al-Dirbashi OY, Shaheen R, Al-Sayed M, Al-Dosari M, Makhseed N, Abu Safieh L, Santa T, Meyer BF, Shimozawa N, Alkuraya FS. Al-Dirbashi OY, et al. Among authors: alkuraya fs. Am J Med Genet A. 2009 Jun;149A(6):1219-23. doi: 10.1002/ajmg.a.32874. Am J Med Genet A. 2009. PMID: 19449432
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.
607 results