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MFSD8 gene mutations; evidence for phenotypic heterogeneity.
Zare-Abdollahi D, Bushehri A, Alavi A, Dehghani A, Mousavi-Mirkala M, Effati J, Miratashi SAM, Dehani M, Jamali P, Khorram Khorshid HR. Zare-Abdollahi D, et al. Among authors: khorram khorshid hr. Ophthalmic Genet. 2019 Apr;40(2):141-145. doi: 10.1080/13816810.2019.1592200. Epub 2019 Apr 22. Ophthalmic Genet. 2019. PMID: 31006324
RPE65 and retinal dystrophy: Report of new and recurrent mutations.
Safari S, Zare-Abdollahi D, Bushehri A, Safari MR, Dehghani A, Tahmasebi Z, Khorram Khorshid HR, Ghadami M. Safari S, et al. Among authors: khorram khorshid hr. J Gene Med. 2020 Mar;22(3):e3154. doi: 10.1002/jgm.3154. Epub 2020 Jan 19. J Gene Med. 2020. PMID: 31957135
Novel Bi-allelic PDE6C Variant Leads to Congenital Achromatopsia.
Bushehri A, Zare-Abdollahi D, Hashemian H, Safavizadeh L, Effati J, Khorram Khorshid HR. Bushehri A, et al. Among authors: khorram khorshid hr. Iran Biomed J. 2020 Jul;24(4):257-63. doi: 10.29252/ibj.24.4.257. Epub 2020 Dec 28. Iran Biomed J. 2020. PMID: 32306724 Free PMC article.
97 results