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Biallelic mutations in human DCC cause developmental split-brain syndrome.
Jamuar SS, Schmitz-Abe K, D'Gama AM, Drottar M, Chan WM, Peeva M, Servattalab S, Lam AN, Delgado MR, Clegg NJ, Zayed ZA, Dogar MA, Alorainy IA, Jamea AA, Abu-Amero K, Griebel M, Ward W, Lein ES, Markianos K, Barkovich AJ, Robson CD, Grant PE, Bosley TM, Engle EC, Walsh CA, Yu TW. Jamuar SS, et al. Among authors: alorainy ia. Nat Genet. 2017 Apr;49(4):606-612. doi: 10.1038/ng.3804. Epub 2017 Feb 27. Nat Genet. 2017. PMID: 28250456 Free PMC article.
The clinical spectrum of homozygous HOXA1 mutations.
Bosley TM, Alorainy IA, Salih MA, Aldhalaan HM, Abu-Amero KK, Oystreck DT, Tischfield MA, Engle EC, Erickson RP. Bosley TM, et al. Among authors: alorainy ia. Am J Med Genet A. 2008 May 15;146A(10):1235-40. doi: 10.1002/ajmg.a.32262. Am J Med Genet A. 2008. PMID: 18412118 Free PMC article.
Ophthalmologic abnormalities in a de novo terminal 6q deletion.
Abu-Amero KK, Hellani A, Salih MA, Al Hussain A, al Obailan M, Zidan G, Alorainy IA, Bosley TM. Abu-Amero KK, et al. Among authors: alorainy ia. Ophthalmic Genet. 2010 Mar;31(1):1-11. doi: 10.3109/13816810903312535. Ophthalmic Genet. 2010. PMID: 20141352
Horizontal gaze palsy and progressive scoliosis without ROBO3 mutations.
Abu-Amero KK, Faletra F, Gasparini P, Parentin F, Pensiero S, Alorainy IA, Hellani AM, Catalano D, Bosley TM. Abu-Amero KK, et al. Among authors: alorainy ia. Ophthalmic Genet. 2011 Nov;32(4):212-6. doi: 10.3109/13816810.2011.574186. Epub 2011 Apr 21. Ophthalmic Genet. 2011. PMID: 21510772
Xq26.3 microdeletion in a male with Wildervanck Syndrome.
Abu-Amero KK, Kondkar AA, Alorainy IA, Khan AO, Al-Enazy LA, Oystreck DT, Bosley TM. Abu-Amero KK, et al. Among authors: alorainy ia. Ophthalmic Genet. 2014 Mar;35(1):18-24. doi: 10.3109/13816810.2013.766218. Epub 2013 Feb 1. Ophthalmic Genet. 2014. PMID: 23373430
70 results