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MFSD8 gene mutations; evidence for phenotypic heterogeneity.
Ophthalmic Genet. 2019 Apr;40(2):141-145. doi: 10.1080/13816810.2019.1592200. Epub 2019 Apr 22.
Ophthalmic Genet. 2019.
PMID: 31006324
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: effati j.
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.
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Identification of a Novel Homozygous Mutation in BBS10 Gene in an Iranian Family with Bardet-Biedl Syndrome.
Dehani M, Zare-Abdollahi D, Bushehri A, Dehghani A, Effati J, Miratashi SAM, Khorram Khorshid HR.
Dehani M, et al. Among authors: effati j.
Avicenna J Med Biotechnol. 2021 Oct-Dec;13(4):230-233.
Avicenna J Med Biotechnol. 2021.
PMID: 34900151
Free PMC article.
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