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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: bosley tm. 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.
Mitochondrial DNA abnormalities in NAION.
Abu-Amero KK, Bosley TM. Abu-Amero KK, et al. Among authors: bosley tm. Br J Ophthalmol. 2007 Nov;91(11):1561. doi: 10.1136/bjo.2007.115089. Br J Ophthalmol. 2007. PMID: 17947273 Free PMC article. No abstract available.
186 results