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Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing.
Merico D, Roifman M, Braunschweig U, Yuen RK, Alexandrova R, Bates A, Reid B, Nalpathamkalam T, Wang Z, Thiruvahindrapuram B, Gray P, Kakakios A, Peake J, Hogarth S, Manson D, Buncic R, Pereira SL, Herbrick JA, Blencowe BJ, Roifman CM, Scherer SW. Merico D, et al. Among authors: buncic r. Nat Commun. 2015 Nov 2;6:8718. doi: 10.1038/ncomms9718. Nat Commun. 2015. PMID: 26522830 Free PMC article.
Optic glioma in children: surveillance, resection, or irradiation?
Jenkin D, Angyalfi S, Becker L, Berry M, Buncic R, Chan H, Doherty M, Drake J, Greenberg M, Hendrick B, et al. Jenkin D, et al. Among authors: buncic r. Int J Radiat Oncol Biol Phys. 1993 Jan 15;25(2):215-25. doi: 10.1016/0360-3016(93)90342-s. Int J Radiat Oncol Biol Phys. 1993. PMID: 8420869
Anterior segment ischemia in giant cell arteritis.
Birt CM, Slomovic A, Motolko M, Buncic R. Birt CM, et al. Among authors: buncic r. Can J Ophthalmol. 1994 Apr;29(2):93-4. Can J Ophthalmol. 1994. PMID: 8069763 No abstract available.
17 results