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Page 1
Homozygous mutations in a predicted endonuclease are a novel cause of congenital dyserythropoietic anemia type I.
Babbs C, Roberts NA, Sanchez-Pulido L, McGowan SJ, Ahmed MR, Brown JM, Sabry MA; WGS500 Consortium; Bentley DR, McVean GA, Donnelly P, Gileadi O, Ponting CP, Higgs DR, Buckle VJ. Babbs C, et al. Among authors: sabry ma. Haematologica. 2013 Sep;98(9):1383-7. doi: 10.3324/haematol.2013.089490. Epub 2013 May 28. Haematologica. 2013. PMID: 23716552 Free PMC article.
Neurologic injury in isolated sulfite oxidase deficiency.
Bosley TM, Alorainy IA, Oystreck DT, Hellani AM, Seidahmed MZ, Osman Mel F, Sabry MA, Rashed MS, Al-Yamani EA, Abu-Amero KK, Salih MA. Bosley TM, et al. Among authors: sabry ma. Can J Neurol Sci. 2014 Jan;41(1):42-8. doi: 10.1017/s0317167100016243. Can J Neurol Sci. 2014. PMID: 24384336
21 results