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Identification of a Missense Variant in the EIF2B3 Gene Causing Vanishing White Matter Disease with Antenatal-Onset but Mild Symptoms and Long-Term Survival.
J Mol Neurosci. 2021 Nov;71(11):2405-2414. doi: 10.1007/s12031-021-01810-0. Epub 2021 Mar 9.
J Mol Neurosci. 2021.
PMID: 33687620
Homozygous TFG gene variants expanding the mutational and clinical spectrum of hereditary spastic paraplegia 57 and a review of literature.
Khorrami M, Tabatabaiefar MA, Khorram E, Yaghini O, Rezaei M, Hejazifar A, Riahinezhad M, Kheirollahi M.
Khorrami M, et al. Among authors: hejazifar a.
J Hum Genet. 2021 Oct;66(10):973-981. doi: 10.1038/s10038-021-00919-9. Epub 2021 Mar 25.
J Hum Genet. 2021.
PMID: 33767317
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Targeted next generation sequencing reveals genetic defects underlying inherited retinal disease in Iranian families.
Tayebi N, Akinrinade O, Khan MI, Hejazifar A, Dehghani A, Cremers FPM, Akhlaghi M.
Tayebi N, et al. Among authors: hejazifar a.
Mol Vis. 2019 Feb 8;25:106-117. eCollection 2019.
Mol Vis. 2019.
PMID: 30820146
Free PMC article.
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