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Two siblings with PEX11B-related peroxisome biogenesis disorder.
Khoddam S, Kamal N, Shiri A, Jafari Khamirani H, Manoochehri J, Dianatpour M, Tabei SMB, Dastgheib SA. Khoddam S, et al. Among authors: tabei smb. Eur J Med Genet. 2024 Apr;68:104928. doi: 10.1016/j.ejmg.2024.104928. Epub 2024 Feb 28. Eur J Med Genet. 2024. PMID: 38423277 Free article.
Correction: A novel frameshift pathogenic variant in ST3GAL5 causing salt and pepper developmental regression syndrome (SPDRS): a case report.
Manoochehri J, Dastgheib SA, Khamirani HJ, Mollaie M, Sharifi Z, Zoghi S, Tabei SMB, Mohammadi S, Dehghanian F, Farbod Z, Dianatpour M. Manoochehri J, et al. Among authors: tabei smb. Hum Genome Var. 2021 Nov 22;8(1):42. doi: 10.1038/s41439-021-00174-6. Hum Genome Var. 2021. PMID: 34811348 Free PMC article. No abstract available.
Recurrent Infections and Immunodeficiency Caused by Severe Pancytopenia Associated with a Novel Life-Threatening Mutation in Hypoxia-Upregulated Protein 1.
Jafari Khamirani H, Dianatpour M, Zoghi S, Mohammadi S, Habib A, Dastgheib SA, Tabei SMB, Molayemat M, Shirazi Yeganeh B. Jafari Khamirani H, et al. Among authors: tabei smb. Immunol Invest. 2022 Aug;51(6):1883-1894. doi: 10.1080/08820139.2022.2072736. Epub 2022 May 12. Immunol Invest. 2022. PMID: 35549617
58 results